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Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.44711080C>A , CM000677.2:g.44711080C>A
GRCh38
NC_000015.9:g.45003278C>A , CM000677.1:g.45003278C>A
GRCh37
NC_000015.8:g.42790570C>A
NCBI36
NG_012920.1:g.4594C>A
NG_012920.2:g.4604C>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000682850.1:c.-314G>T
MANE Select
ENSP00000508024.1:n.-314G>T
ENST00000558573.1:n.237G>T
XM_011521338.1:c.-314G>T
XP_011519640.1:n.-314G>T
XM_011521339.1:c.-195G>T
XP_011519641.1:n.-195G>T
XM_011521340.1:c.-136G>T
XP_011519642.1:n.-136G>T
XM_011521343.1:c.-398G>T
XP_011519645.1:n.-398G>T
XM_011521345.1:c.-369G>T
XP_011519647.1:n.-369G>T
XM_011521338.3:c.-314G>T
XP_011519640.1:n.-314G>T
XM_011521339.3:c.-195G>T
XP_011519641.1:n.-195G>T
XM_011521340.3:c.-136G>T
XP_011519642.1:n.-136G>T
XM_011521343.3:c.-398G>T
XP_011519645.1:n.-398G>T
XM_011521345.3:c.-369G>T
XP_011519647.1:n.-369G>T
NM_001387260.1:c.-76+252G>T
NP_001374189.1:n.-76+252G>T
NM_001387261.1:c.-136G>T
NP_001374190.1:n.-136G>T
NM_001387262.1:c.-404G>T
NP_001374191.1:n.-404G>T
NM_001387263.1:c.-314G>T
MANE Select
NP_001374192.1:n.-314G>T