HGVS | Genome Assembly |
---|---|
NC_000012.12:g.13981722G>A , CM000674.2:g.13981722G>A | GRCh38 |
NC_000012.11:g.14134656G>A , CM000674.1:g.14134656G>A | GRCh37 |
NC_000012.10:g.14025923G>A | NCBI36 |
NG_031854.1:g.3367C>T | |
NG_031854.2:g.5291C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000630791.2:c.-682-146C>T | ENSP00000486677.2:n.-682-146C>T | |
ENST00000627535.2:c.-448+194C>T | ENSP00000486411.1:n.-448+194C>T | |
ENST00000630791.1:c.-682-146C>T | ENSP00000486677.1:n.-682-146C>T | |
XM_011520629.1:c.-682-146C>T | XP_011518931.1:n.-682-146C>T | |
XM_011520628.2:c.-828C>T | XP_011518930.1:n.-828C>T | |
XM_011520629.2:c.-682-146C>T | XP_011518931.1:n.-682-146C>T |