HGVS | Genome Assembly |
---|---|
NC_000012.12:g.12717832G>A , CM000674.2:g.12717832G>A | GRCh38 |
NC_000012.11:g.12870766G>A , CM000674.1:g.12870766G>A | GRCh37 |
NC_000012.10:g.12762033G>A | NCBI36 |
NG_016341.1:g.5465G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000614874.2:c.-8G>A | ENSP00000507272.1:n.-8G>A | |
ENST00000682620.1:n.1631-993G>A | ||
ENST00000684771.1:n.585-993G>A | ||
ENST00000228872.9:c.-8G>A MANE Select | ENSP00000228872.4:n.-8G>A | |
ENST00000228872.8:c.-8G>A | ENSP00000228872.4:n.-8G>A | |
ENST00000396340.1:c.-8G>A | ENSP00000379629.1:n.-8G>A | |
ENST00000477087.1:n.155-993G>A | ||
NM_004064.4:c.-8G>A | NP_004055.1:n.-8G>A | |
NM_004064.5:c.-8G>A MANE Select | NP_004055.1:n.-8G>A |