HGVS | Genome Assembly |
---|---|
NC_000012.12:g.13981680A>G , CM000674.2:g.13981680A>G | GRCh38 |
NC_000012.11:g.14134614A>G , CM000674.1:g.14134614A>G | GRCh37 |
NC_000012.10:g.14025881A>G | NCBI36 |
NG_031854.1:g.3409T>C | |
NG_031854.2:g.5333T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000630791.2:c.-682-104T>C | ENSP00000486677.2:n.-682-104T>C | |
ENST00000627535.2:c.-448+236T>C | ENSP00000486411.1:n.-448+236T>C | |
ENST00000630791.1:c.-682-104T>C | ENSP00000486677.1:n.-682-104T>C | |
XM_011520629.1:c.-682-104T>C | XP_011518931.1:n.-682-104T>C | |
XM_011520628.2:c.-786T>C | XP_011518930.1:n.-786T>C | |
XM_011520629.2:c.-682-104T>C | XP_011518931.1:n.-682-104T>C |