HGVS | Genome Assembly |
---|---|
NC_000012.12:g.12717820C>A , CM000674.2:g.12717820C>A | GRCh38 |
NC_000012.11:g.12870754C>A , CM000674.1:g.12870754C>A | GRCh37 |
NC_000012.10:g.12762021C>A | NCBI36 |
NG_016341.1:g.5453C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000614874.2:c.-20C>A | ENSP00000507272.1:n.-20C>A | |
ENST00000682620.1:n.1631-1005C>A | ||
ENST00000684771.1:n.585-1005C>A | ||
ENST00000228872.9:c.-20C>A MANE Select | ENSP00000228872.4:n.-20C>A | |
ENST00000228872.8:c.-20C>A | ENSP00000228872.4:n.-20C>A | |
ENST00000477087.1:n.155-1005C>A | ||
NM_004064.4:c.-20C>A | NP_004055.1:n.-20C>A | |
NM_004064.5:c.-20C>A MANE Select | NP_004055.1:n.-20C>A |