HGVS | Genome Assembly |
---|---|
NC_000012.12:g.13981717C>A , CM000674.2:g.13981717C>A | GRCh38 |
NC_000012.11:g.14134651C>A , CM000674.1:g.14134651C>A | GRCh37 |
NC_000012.10:g.14025918C>A | NCBI36 |
NG_031854.1:g.3372G>T | |
NG_031854.2:g.5296G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000630791.2:c.-682-141G>T | ENSP00000486677.2:n.-682-141G>T | |
ENST00000627535.2:c.-448+199G>T | ENSP00000486411.1:n.-448+199G>T | |
ENST00000630791.1:c.-682-141G>T | ENSP00000486677.1:n.-682-141G>T | |
XM_011520629.1:c.-682-141G>T | XP_011518931.1:n.-682-141G>T | |
XM_011520628.2:c.-823G>T | XP_011518930.1:n.-823G>T | |
XM_011520629.2:c.-682-141G>T | XP_011518931.1:n.-682-141G>T |