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Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.12915897C>T , CM000686.2:g.12915897C>T
GRCh38
NC_000024.9:g.15027809C>T , CM000686.1:g.15027809C>T
GRCh37
NC_000024.8:g.13537203C>T
NCBI36
NG_012831.1:g.16791C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000336079.8:c.1179C>T
MANE Select
ENSP00000336725.3:p.Asp393=
ENST00000336079.7:c.1179C>T
ENSP00000336725.3:p.Asp393=
ENST00000360160.8:c.1179C>T
ENSP00000353284.4:p.Asp393=
ENST00000495478.1:n.294C>T
NM_001122665.2:c.1179C>T
NP_001116137.1:p.Asp393=
NM_001302552.1:c.1170C>T
NP_001289481.1:p.Asp390=
NM_004660.4:c.1179C>T
NP_004651.2:p.Asp393=
XM_006724878.1:c.1179C>T
XP_006724941.1:p.Asp393=
XM_011531471.1:c.1179C>T
XP_011529773.1:p.Asp393=
NM_001122665.3:c.1179C>T
NP_001116137.1:p.Asp393=
NM_001302552.2:c.1170C>T
NP_001289481.1:p.Asp390=
NM_001324195.1:c.1179C>T
NP_001311124.1:p.Asp393=
NR_136716.1:n.1648C>T
NR_136717.1:n.1410C>T
NR_136718.1:n.1728C>T
NR_136719.1:n.1518C>T
NR_136720.1:n.1648C>T
NR_136721.1:n.1241C>T
NR_136722.1:n.1325C>T
NR_136723.1:n.1643C>T
NR_136724.1:n.1563C>T
XR_001756014.2:n.1283C>T
NM_004660.5:c.1179C>T
MANE Select
NP_004651.2:p.Asp393=
NM_001302552.3:c.1170C>T
NP_001289481.1:p.Asp390=
NM_001324195.2:c.1179C>T
NP_001311124.1:p.Asp393=
NR_136716.2:n.1566C>T
NR_136717.2:n.1328C>T
NR_136718.2:n.1646C>T
NR_136719.2:n.1436C>T
NR_136720.2:n.1566C>T
NR_136721.2:n.1231C>T