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Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.12915891T>C , CM000686.2:g.12915891T>C
GRCh38
NC_000024.9:g.15027803T>C , CM000686.1:g.15027803T>C
GRCh37
NC_000024.8:g.13537197T>C
NCBI36
NG_012831.1:g.16785T>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000336079.8:c.1173T>C
MANE Select
ENSP00000336725.3:p.Ala391=
ENST00000336079.7:c.1173T>C
ENSP00000336725.3:p.Ala391=
ENST00000360160.8:c.1173T>C
ENSP00000353284.4:p.Ala391=
ENST00000495478.1:n.288T>C
NM_001122665.2:c.1173T>C
NP_001116137.1:p.Ala391=
NM_001302552.1:c.1164T>C
NP_001289481.1:p.Ala388=
NM_004660.4:c.1173T>C
NP_004651.2:p.Ala391=
XM_006724878.1:c.1173T>C
XP_006724941.1:p.Ala391=
XM_011531471.1:c.1173T>C
XP_011529773.1:p.Ala391=
NM_001122665.3:c.1173T>C
NP_001116137.1:p.Ala391=
NM_001302552.2:c.1164T>C
NP_001289481.1:p.Ala388=
NM_001324195.1:c.1173T>C
NP_001311124.1:p.Ala391=
NR_136716.1:n.1642T>C
NR_136717.1:n.1404T>C
NR_136718.1:n.1722T>C
NR_136719.1:n.1512T>C
NR_136720.1:n.1642T>C
NR_136721.1:n.1235T>C
NR_136722.1:n.1319T>C
NR_136723.1:n.1637T>C
NR_136724.1:n.1557T>C
XR_001756014.2:n.1277T>C
NM_004660.5:c.1173T>C
MANE Select
NP_004651.2:p.Ala391=
NM_001302552.3:c.1164T>C
NP_001289481.1:p.Ala388=
NM_001324195.2:c.1173T>C
NP_001311124.1:p.Ala391=
NR_136716.2:n.1560T>C
NR_136717.2:n.1322T>C
NR_136718.2:n.1640T>C
NR_136719.2:n.1430T>C
NR_136720.2:n.1560T>C
NR_136721.2:n.1225T>C