sujigwak/NVAR huggingface dataset:
UniProt ID: P02042
Variant: G -> D at position 25-25
Variant annotation: in Victoria; dbSNP:rs34460332
Protein function: Involved in oxygen transport from the lung to the various peripheral tissues.
Reference sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH
UniProt ID: P02042
Variant: G -> D at position 26-26
Variant annotation: in Yokoshima; dbSNP:rs34389944
Protein function: Involved in oxygen transport from the lung to the various peripheral tissues.
Reference sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH
UniProt ID: P02042
Variant: E -> D at position 27-27
Variant annotation: in Puglia; dbSNP:rs34289459
Protein function: Involved in oxygen transport from the lung to the various peripheral tissues.
Reference sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH
UniProt ID: P02042
Variant: A -> S at position 28-28
Variant annotation: in Yialousa; dbSNP:rs35152987
Protein function: Involved in oxygen transport from the lung to the various peripheral tissues.
Reference sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH
UniProt ID: P02042
Variant: P -> H at position 37-37
Variant annotation: in Metaponto; dbSNP:rs34383555
Protein function: Involved in oxygen transport from the lung to the various peripheral tissues.
Reference sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH
UniProt ID: P02042
Variant: E -> G at position 44-44
Variant annotation: in Agrinio; dbSNP:rs36084266
Protein function: Involved in oxygen transport from the lung to the various peripheral tissues.
Reference sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH
UniProt ID: P02042
Variant: E -> K at position 44-44
Variant annotation: in Melbourne; dbSNP:rs35166721
Protein function: Involved in oxygen transport from the lung to the various peripheral tissues.
Reference sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH
UniProt ID: P02042
Variant: D -> V at position 48-48
Variant annotation: in Parkville; dbSNP:rs34977235
Protein function: Involved in oxygen transport from the lung to the various peripheral tissues.
Reference sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH
UniProt ID: P02042
Variant: P -> R at position 52-52
Variant annotation: in Adria; dbSNP:rs34489183
Protein function: Involved in oxygen transport from the lung to the various peripheral tissues.
Reference sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH
UniProt ID: P02042
Variant: N -> K at position 58-58
Variant annotation: in Campania; dbSNP:rs35666685
Protein function: Involved in oxygen transport from the lung to the various peripheral tissues.
Reference sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH
UniProt ID: P02042
Variant: G -> R at position 70-70
Variant annotation: in Indonesia; dbSNP:rs35913713
Protein function: Involved in oxygen transport from the lung to the various peripheral tissues.
Reference sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH
UniProt ID: P02042
Variant: A -> G at position 71-71
Variant annotation: in Ventimiglia; dbSNP:rs63750423
Protein function: Involved in oxygen transport from the lung to the various peripheral tissues.
Reference sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH
UniProt ID: P02042
Variant: L -> V at position 76-76
Variant annotation: in Grovetown; dbSNP:rs34430836
Protein function: Involved in oxygen transport from the lung to the various peripheral tissues.
Reference sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH
UniProt ID: P02042
Variant: F -> S at position 86-86
Variant annotation: in Etolia; dbSNP:rs35633566
Protein function: Involved in oxygen transport from the lung to the various peripheral tissues.
Reference sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH
UniProt ID: P02042
Variant: Q -> K at position 88-88
Variant annotation: in Montechiaro; dbSNP:rs63750674
Protein function: Involved in oxygen transport from the lung to the various peripheral tissues.
Reference sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH
UniProt ID: P02042
Variant: L -> V at position 89-89
Variant annotation: in Lucania; dbSNP:rs34933313
Protein function: Involved in oxygen transport from the lung to the various peripheral tissues.
Reference sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH
UniProt ID: P02042
Variant: E -> V at position 91-91
Variant annotation: in Honai; dbSNP:rs34420481
Protein function: Involved in oxygen transport from the lung to the various peripheral tissues.
Reference sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH
UniProt ID: P02042
Variant: C -> G at position 94-94
Variant annotation: in Sant' Antioco; dbSNP:rs28933077
Protein function: Involved in oxygen transport from the lung to the various peripheral tissues.
Reference sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH
UniProt ID: P02042
Variant: V -> M at position 99-99
Variant annotation: in Wrens; unstable; dbSNP:rs28933076
Protein function: Involved in oxygen transport from the lung to the various peripheral tissues.
Reference sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH
UniProt ID: P02042
Variant: D -> N at position 100-100
Variant annotation: in Canada; O(2) affinity up; dbSNP:rs35329985
Protein function: Involved in oxygen transport from the lung to the various peripheral tissues.
Reference sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH
UniProt ID: P02042
Variant: R -> S at position 105-105
Variant annotation: in Capri; dbSNP:rs34390965
Protein function: Involved in oxygen transport from the lung to the various peripheral tissues.
Reference sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH
UniProt ID: P02042
Variant: R -> C at position 117-117
Variant annotation: in Corfu/Troodos; dbSNP:rs33971270
Protein function: Involved in oxygen transport from the lung to the various peripheral tissues.
Reference sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH
UniProt ID: P02042
Variant: R -> H at position 117-117
Variant annotation: in Coburg; dbSNP:rs34536353
Protein function: Involved in oxygen transport from the lung to the various peripheral tissues.
Reference sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH
UniProt ID: P02042
Variant: N -> D at position 118-118
Variant annotation: in LiangCheng; dbSNP:rs36049174
Protein function: Involved in oxygen transport from the lung to the various peripheral tissues.
Reference sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH
UniProt ID: P02042
Variant: E -> V at position 122-122
Variant annotation: in Manzanares; unstable; dbSNP:rs35790721
Protein function: Involved in oxygen transport from the lung to the various peripheral tissues.
Reference sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH
UniProt ID: P02042
Variant: Q -> E at position 126-126
Variant annotation: in Zagreb; dbSNP:rs36078803
Protein function: Involved in oxygen transport from the lung to the various peripheral tissues.
Reference sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH
UniProt ID: P02042
Variant: V -> A at position 134-134
Variant annotation: in Ninive; dbSNP:rs34802738
Protein function: Involved in oxygen transport from the lung to the various peripheral tissues.
Reference sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH
UniProt ID: P02042
Variant: G -> D at position 137-137
Variant annotation: in Babinga; dbSNP:rs35849348
Protein function: Involved in oxygen transport from the lung to the various peripheral tissues.
Reference sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH
UniProt ID: P02042
Variant: A -> V at position 141-141
Variant annotation: in Bagheria; dbSNP:rs63750461
Protein function: Involved in oxygen transport from the lung to the various peripheral tissues.
Reference sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH
UniProt ID: P02042
Variant: L -> P at position 142-142
Variant annotation: in Pelendri; dbSNP:rs33956485
Protein function: Involved in oxygen transport from the lung to the various peripheral tissues.
Reference sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH
UniProt ID: P02042
Variant: A -> D at position 143-143
Variant annotation: in Fitzroy; dbSNP:rs35848600
Protein function: Involved in oxygen transport from the lung to the various peripheral tissues.
Reference sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH
UniProt ID: P02042
Variant: H -> R at position 147-147
Variant annotation: in Monreale; dbSNP:rs34149886
Protein function: Involved in oxygen transport from the lung to the various peripheral tissues.
Reference sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH
UniProt ID: P02050
Variant: E -> Q at position 125-125
Variant annotation: in beta-2
Protein function: Involved in oxygen transport from the lung to the various peripheral tissues.
Reference sequence:
VHLTPDEKNAVCALWGKVNVEEVGGEALGRLLVVYPWTQRFFDSFGDLSSPSAVMGNPKVKAHGKKVLSAFSDGLQHLDNLCGTFAKLSELHCDKLHVNPENFRLLGNVLVCVLAHHFGKDFTPEVQAAYEKVVAGVATALAHKYH
UniProt ID: P02057
Variant: N -> H at position 53-53
Variant annotation: in beta-2
Protein function: Involved in oxygen transport from the lung to the various peripheral tissues.
Reference sequence:
MVHLSSEEKSAVTALWGKVNVEEVGGEALGRLLVVYPWTQRFFESFGDLSSANAVMNNPKVKAHGKKVLAAFSEGLSHLDNLKGTFAKLSELHCDKLHVDPENFRLLGNVLVIVLSHHFGKEFTPQVQAAYQKVVAGVANALAHKYH
UniProt ID: P02057
Variant: N -> S at position 57-57
Variant annotation: in beta-2
Protein function: Involved in oxygen transport from the lung to the various peripheral tissues.
Reference sequence:
MVHLSSEEKSAVTALWGKVNVEEVGGEALGRLLVVYPWTQRFFESFGDLSSANAVMNNPKVKAHGKKVLAAFSEGLSHLDNLKGTFAKLSELHCDKLHVDPENFRLLGNVLVIVLSHHFGKEFTPQVQAAYQKVVAGVANALAHKYH
UniProt ID: P02057
Variant: S -> N at position 77-77
Variant annotation: in beta-2
Protein function: Involved in oxygen transport from the lung to the various peripheral tissues.
Reference sequence:
MVHLSSEEKSAVTALWGKVNVEEVGGEALGRLLVVYPWTQRFFESFGDLSSANAVMNNPKVKAHGKKVLAAFSEGLSHLDNLKGTFAKLSELHCDKLHVDPENFRLLGNVLVIVLSHHFGKEFTPQVQAAYQKVVAGVANALAHKYH
UniProt ID: P02057
Variant: I -> V at position 113-113
Variant annotation: in beta-2
Protein function: Involved in oxygen transport from the lung to the various peripheral tissues.
Reference sequence:
MVHLSSEEKSAVTALWGKVNVEEVGGEALGRLLVVYPWTQRFFESFGDLSSANAVMNNPKVKAHGKKVLAAFSEGLSHLDNLKGTFAKLSELHCDKLHVDPENFRLLGNVLVIVLSHHFGKEFTPQVQAAYQKVVAGVANALAHKYH
UniProt ID: P02070
Variant: G -> S at position 15-15
Variant annotation: in allele B
Protein function: Functions as an endogenous inhibitor of enkephalin-degrading enzymes such as DPP3, and may thereby play a role as a regulator of pain and inflammation.
Reference sequence:
MLTAEEKAAVTAFWGKVKVDEVGGEALGRLLVVYPWTQRFFESFGDLSTADAVMNNPKVKAHGKKVLDSFSNGMKHLDDLKGTFAALSELHCDKLHVDPENFKLLGNVLVVVLARNFGKEFTPVLQADFQKVVAGVANALAHRYH
UniProt ID: P02070
Variant: K -> H at position 18-18
Variant annotation: in allele B
Protein function: Functions as an endogenous inhibitor of enkephalin-degrading enzymes such as DPP3, and may thereby play a role as a regulator of pain and inflammation.
Reference sequence:
MLTAEEKAAVTAFWGKVKVDEVGGEALGRLLVVYPWTQRFFESFGDLSTADAVMNNPKVKAHGKKVLDSFSNGMKHLDDLKGTFAALSELHCDKLHVDPENFKLLGNVLVVVLARNFGKEFTPVLQADFQKVVAGVANALAHRYH
UniProt ID: P02070
Variant: D -> G at position 20-20
Variant annotation: in allele D-Zambia
Protein function: Functions as an endogenous inhibitor of enkephalin-degrading enzymes such as DPP3, and may thereby play a role as a regulator of pain and inflammation.
Reference sequence:
MLTAEEKAAVTAFWGKVKVDEVGGEALGRLLVVYPWTQRFFESFGDLSTADAVMNNPKVKAHGKKVLDSFSNGMKHLDDLKGTFAALSELHCDKLHVDPENFKLLGNVLVVVLARNFGKEFTPVLQADFQKVVAGVANALAHRYH
UniProt ID: P02070
Variant: S -> T at position 43-43
Variant annotation: in allele D-Zambia
Protein function: Functions as an endogenous inhibitor of enkephalin-degrading enzymes such as DPP3, and may thereby play a role as a regulator of pain and inflammation.
Reference sequence:
MLTAEEKAAVTAFWGKVKVDEVGGEALGRLLVVYPWTQRFFESFGDLSTADAVMNNPKVKAHGKKVLDSFSNGMKHLDDLKGTFAALSELHCDKLHVDPENFKLLGNVLVVVLARNFGKEFTPVLQADFQKVVAGVANALAHRYH
UniProt ID: P02070
Variant: K -> N at position 119-119
Variant annotation: in allele B
Protein function: Functions as an endogenous inhibitor of enkephalin-degrading enzymes such as DPP3, and may thereby play a role as a regulator of pain and inflammation.
Reference sequence:
MLTAEEKAAVTAFWGKVKVDEVGGEALGRLLVVYPWTQRFFESFGDLSTADAVMNNPKVKAHGKKVLDSFSNGMKHLDDLKGTFAALSELHCDKLHVDPENFKLLGNVLVVVLARNFGKEFTPVLQADFQKVVAGVANALAHRYH
UniProt ID: P02070
Variant: K -> Q at position 131-131
Variant annotation: in allele C-Rhodesia
Protein function: Functions as an endogenous inhibitor of enkephalin-degrading enzymes such as DPP3, and may thereby play a role as a regulator of pain and inflammation.
Reference sequence:
MLTAEEKAAVTAFWGKVKVDEVGGEALGRLLVVYPWTQRFFESFGDLSTADAVMNNPKVKAHGKKVLDSFSNGMKHLDDLKGTFAALSELHCDKLHVDPENFKLLGNVLVVVLARNFGKEFTPVLQADFQKVVAGVANALAHRYH
UniProt ID: P02075
Variant: N -> S at position 49-49
Variant annotation: in allele A
Protein function: Involved in oxygen transport from the lung to the various peripheral tissues.
Reference sequence:
MLTAEEKAAVTGFWGKVKVDEVGAEALGRLLVVYPWTQRFFEHFGDLSNADAVMNNPKVKAHGKKVLDSFSNGMKHLDDLKGTFAQLSELHCDKLHVDPENFRLLGNVLVVVLARHHGNEFTPVLQADFQKVVAGVANALAHKYH
UniProt ID: P02075
Variant: P -> A at position 57-57
Variant annotation: in allele A
Protein function: Involved in oxygen transport from the lung to the various peripheral tissues.
Reference sequence:
MLTAEEKAAVTGFWGKVKVDEVGAEALGRLLVVYPWTQRFFEHFGDLSNADAVMNNPKVKAHGKKVLDSFSNGMKHLDDLKGTFAQLSELHCDKLHVDPENFRLLGNVLVVVLARHHGNEFTPVLQADFQKVVAGVANALAHKYH
UniProt ID: P02075
Variant: MK -> VQ at position 74-75
Variant annotation: in allele A
Protein function: Involved in oxygen transport from the lung to the various peripheral tissues.
Reference sequence:
MLTAEEKAAVTGFWGKVKVDEVGAEALGRLLVVYPWTQRFFEHFGDLSNADAVMNNPKVKAHGKKVLDSFSNGMKHLDDLKGTFAQLSELHCDKLHVDPENFRLLGNVLVVVLARHHGNEFTPVLQADFQKVVAGVANALAHKYH
UniProt ID: P02075
Variant: N -> S at position 119-119
Variant annotation: in allele A
Protein function: Involved in oxygen transport from the lung to the various peripheral tissues.
Reference sequence:
MLTAEEKAAVTGFWGKVKVDEVGAEALGRLLVVYPWTQRFFEHFGDLSNADAVMNNPKVKAHGKKVLDSFSNGMKHLDDLKGTFAQLSELHCDKLHVDPENFRLLGNVLVVVLARHHGNEFTPVLQADFQKVVAGVANALAHKYH
UniProt ID: P02075
Variant: D -> E at position 128-128
Variant annotation: in allele A
Protein function: Involved in oxygen transport from the lung to the various peripheral tissues.
Reference sequence:
MLTAEEKAAVTGFWGKVKVDEVGAEALGRLLVVYPWTQRFFEHFGDLSNADAVMNNPKVKAHGKKVLDSFSNGMKHLDDLKGTFAQLSELHCDKLHVDPENFRLLGNVLVVVLARHHGNEFTPVLQADFQKVVAGVANALAHKYH
UniProt ID: P02075
Variant: K -> R at position 143-143
Variant annotation: in allele A
Protein function: Involved in oxygen transport from the lung to the various peripheral tissues.
Reference sequence:
MLTAEEKAAVTGFWGKVKVDEVGAEALGRLLVVYPWTQRFFEHFGDLSNADAVMNNPKVKAHGKKVLDSFSNGMKHLDDLKGTFAQLSELHCDKLHVDPENFRLLGNVLVVVLARHHGNEFTPVLQADFQKVVAGVANALAHKYH
UniProt ID: P02077
Variant: D -> H at position 20-20
Variant annotation: in allele D
Protein function: Involved in oxygen transport from the lung to the various peripheral tissues.
Reference sequence:
MLTAEEKAAVTGFWGKVKVDEVGAEALGRLLVVYPWTQRFFEHFGDLSSADAVMNNAKVKAHGKKVLDSFSNGMKHLDDLKGTFAQLSELHCDKLHVDPENFKLLGNVLVVVLARHHGSEFTPLLQAEFQKVVAGVANALAHRYH
UniProt ID: P02077
Variant: Q -> H at position 86-86
Variant annotation: in allele E
Protein function: Involved in oxygen transport from the lung to the various peripheral tissues.
Reference sequence:
MLTAEEKAAVTGFWGKVKVDEVGAEALGRLLVVYPWTQRFFEHFGDLSSADAVMNNAKVKAHGKKVLDSFSNGMKHLDDLKGTFAQLSELHCDKLHVDPENFKLLGNVLVVVLARHHGSEFTPLLQAEFQKVVAGVANALAHRYH
UniProt ID: P02077
Variant: K -> R at position 103-103
Variant annotation: in allele E
Protein function: Involved in oxygen transport from the lung to the various peripheral tissues.
Reference sequence:
MLTAEEKAAVTGFWGKVKVDEVGAEALGRLLVVYPWTQRFFEHFGDLSSADAVMNNAKVKAHGKKVLDSFSNGMKHLDDLKGTFAQLSELHCDKLHVDPENFKLLGNVLVVVLARHHGSEFTPLLQAEFQKVVAGVANALAHRYH
UniProt ID: P02077
Variant: L -> V at position 124-124
Variant annotation: in allele E
Protein function: Involved in oxygen transport from the lung to the various peripheral tissues.
Reference sequence:
MLTAEEKAAVTGFWGKVKVDEVGAEALGRLLVVYPWTQRFFEHFGDLSSADAVMNNAKVKAHGKKVLDSFSNGMKHLDDLKGTFAQLSELHCDKLHVDPENFKLLGNVLVVVLARHHGSEFTPLLQAEFQKVVAGVANALAHRYH
UniProt ID: P02088
Variant: C -> G at position 14-14
Variant annotation: in allele S and allele W1
Protein function: Involved in oxygen transport from the lung to the various peripheral tissues.
Reference sequence:
MVHLTDAEKAAVSCLWGKVNSDEVGGEALGRLLVVYPWTQRYFDSFGDLSSASAIMGNAKVKAHGKKVITAFNDGLNHLDSLKGTFASLSELHCDKLHVDPENFRLLGNMIVIVLGHHLGKDFTPAAQAAFQKVVAGVATALAHKYH
UniProt ID: P02088
Variant: S -> A at position 21-21
Variant annotation: in allele S
Protein function: Involved in oxygen transport from the lung to the various peripheral tissues.
Reference sequence:
MVHLTDAEKAAVSCLWGKVNSDEVGGEALGRLLVVYPWTQRYFDSFGDLSSASAIMGNAKVKAHGKKVITAFNDGLNHLDSLKGTFASLSELHCDKLHVDPENFRLLGNMIVIVLGHHLGKDFTPAAQAAFQKVVAGVATALAHKYH
UniProt ID: P02088
Variant: D -> E at position 74-74
Variant annotation: in allele W1
Protein function: Involved in oxygen transport from the lung to the various peripheral tissues.
Reference sequence:
MVHLTDAEKAAVSCLWGKVNSDEVGGEALGRLLVVYPWTQRYFDSFGDLSSASAIMGNAKVKAHGKKVITAFNDGLNHLDSLKGTFASLSELHCDKLHVDPENFRLLGNMIVIVLGHHLGKDFTPAAQAAFQKVVAGVATALAHKYH
UniProt ID: P02088
Variant: V -> M at position 135-135
Variant annotation: in allele W1
Protein function: Involved in oxygen transport from the lung to the various peripheral tissues.
Reference sequence:
MVHLTDAEKAAVSCLWGKVNSDEVGGEALGRLLVVYPWTQRYFDSFGDLSSASAIMGNAKVKAHGKKVITAFNDGLNHLDSLKGTFASLSELHCDKLHVDPENFRLLGNMIVIVLGHHLGKDFTPAAQAAFQKVVAGVATALAHKYH
UniProt ID: P02088
Variant: T -> A at position 140-140
Variant annotation: in allele S
Protein function: Involved in oxygen transport from the lung to the various peripheral tissues.
Reference sequence:
MVHLTDAEKAAVSCLWGKVNSDEVGGEALGRLLVVYPWTQRYFDSFGDLSSASAIMGNAKVKAHGKKVITAFNDGLNHLDSLKGTFASLSELHCDKLHVDPENFRLLGNMIVIVLGHHLGKDFTPAAQAAFQKVVAGVATALAHKYH
UniProt ID: P02089
Variant: EV -> AI at position 23-24
Variant annotation: in allele P
Protein function: Involved in oxygen transport from the lung to the various peripheral tissues.
Reference sequence:
MVHLTDAEKSAVSCLWAKVNPDEVGGEALGRLLVVYPWTQRYFDSFGDLSSASAIMGNPKVKAHGKKVITAFNEGLKNLDNLKGTFASLSELHCDKLHVDPENFRLLGNAIVIVLGHHLGKDFTPAAQAAFQKVVAGVATALAHKYH
UniProt ID: P02091
Variant: P -> A at position 59-59
Protein function: Involved in oxygen transport from the lung to the various peripheral tissues.
Reference sequence:
MVHLTDAEKAAVNGLWGKVNPDDVGGEALGRLLVVYPWTQRYFDSFGDLSSASAIMGNPKVKAHGKKVINAFNDGLKHLDNLKGTFAHLSELHCDKLHVDPENFRLLGNMIVIVLGHHLGKEFTPCAQAAFQKVVAGVASALAHKYH
UniProt ID: P02091
Variant: H -> N at position 88-88
Protein function: Involved in oxygen transport from the lung to the various peripheral tissues.
Reference sequence:
MVHLTDAEKAAVNGLWGKVNPDDVGGEALGRLLVVYPWTQRYFDSFGDLSSASAIMGNPKVKAHGKKVINAFNDGLKHLDNLKGTFAHLSELHCDKLHVDPENFRLLGNMIVIVLGHHLGKEFTPCAQAAFQKVVAGVASALAHKYH
UniProt ID: P02091
Variant: S -> T at position 90-90
Protein function: Involved in oxygen transport from the lung to the various peripheral tissues.
Reference sequence:
MVHLTDAEKAAVNGLWGKVNPDDVGGEALGRLLVVYPWTQRYFDSFGDLSSASAIMGNPKVKAHGKKVINAFNDGLKHLDNLKGTFAHLSELHCDKLHVDPENFRLLGNMIVIVLGHHLGKEFTPCAQAAFQKVVAGVASALAHKYH
UniProt ID: P02091
Variant: T -> S at position 124-124
Protein function: Involved in oxygen transport from the lung to the various peripheral tissues.
Reference sequence:
MVHLTDAEKAAVNGLWGKVNPDDVGGEALGRLLVVYPWTQRYFDSFGDLSSASAIMGNPKVKAHGKKVINAFNDGLKHLDNLKGTFAHLSELHCDKLHVDPENFRLLGNMIVIVLGHHLGKEFTPCAQAAFQKVVAGVASALAHKYH
UniProt ID: P02104
Variant: EE -> GK at position 22-23
Protein function: Hemoglobin epsilon chain is a beta-type chain found in early embryos.
Reference sequence:
MVNFTAEEKTLINGLWSKVNVEEVGGEALGRLLVVYPWTQRFFDSFGNLSSASAIMGNPRVKAHGKKVLTAFGESIKNLDNLKSALAKLSELHCDKLHVDPENFKLLGNVLVIVLASHFGNEFTAEMQAAWQKLVAGVATALSHKYH
UniProt ID: P02104
Variant: Q -> H at position 40-40
Protein function: Hemoglobin epsilon chain is a beta-type chain found in early embryos.
Reference sequence:
MVNFTAEEKTLINGLWSKVNVEEVGGEALGRLLVVYPWTQRFFDSFGNLSSASAIMGNPRVKAHGKKVLTAFGESIKNLDNLKSALAKLSELHCDKLHVDPENFKLLGNVLVIVLASHFGNEFTAEMQAAWQKLVAGVATALSHKYH
UniProt ID: P02106
Variant: H -> Q at position 2-2
Variant annotation: in allele
Protein function: Involved in oxygen transport from the lung to the various peripheral tissues.
Reference sequence:
VHLTAEEKNAITSLWGKVAIEQTGGEALGRLLIVYPWTSRFFDHFGDLSNAKAVMANPKVLAHGAKVLVAFGDAIKNLDNLKGTFAKLSELHCDKLHVDPENFKLLGNIIVICLAEHFGKEFTIDTQVAWQKLVAGVANALAHKYH
UniProt ID: P02110
Variant: G -> E at position 6-6
Variant annotation: in allelic variant
Protein function: Involved in oxygen transport from the lung to the various peripheral tissues.
Reference sequence:
MVHLSGSEKTAVTNLWGHVNVNELGGEALGRLLVVYPWTQRFFESFGDLSSADAVMGNAKVKAHGAKVLTSFGDALKNLDNLKGTFAKLSELHCDKLHVDPENFNRLGNVLVVVLARHFSKEFTPEAQAAWQKLVSGVSHALAHKYH