HGVS | Genome Assembly |
---|---|
NC_000012.12:g.13981836C>T , CM000674.2:g.13981836C>T | GRCh38 |
NC_000012.11:g.14134770C>T , CM000674.1:g.14134770C>T | GRCh37 |
NC_000012.10:g.14026037C>T | NCBI36 |
NG_031854.1:g.3253G>A | |
NG_031854.2:g.5177G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000630791.2:c.-683+80G>A | ENSP00000486677.2:n.-683+80G>A | |
ENST00000627535.2:c.-448+80G>A | ENSP00000486411.1:n.-448+80G>A | |
ENST00000630791.1:c.-683+80G>A | ENSP00000486677.1:n.-683+80G>A | |
XM_011520629.1:c.-683+80G>A | XP_011518931.1:n.-683+80G>A | |
XM_011520628.2:c.-942G>A | XP_011518930.1:n.-942G>A | |
XM_011520629.2:c.-683+80G>A | XP_011518931.1:n.-683+80G>A |