HGVS | Genome Assembly |
---|---|
NC_000012.12:g.12717991A>T , CM000674.2:g.12717991A>T | GRCh38 |
NC_000012.11:g.12870925A>T , CM000674.1:g.12870925A>T | GRCh37 |
NC_000012.10:g.12762192A>T | NCBI36 |
NG_016341.1:g.5624A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000614874.2:c.152A>T | ENSP00000507272.1:p.Asp51Val | |
ENST00000682620.1:n.1631-834A>T | ||
ENST00000684771.1:n.585-834A>T | ||
ENST00000228872.9:c.152A>T MANE Select | ENSP00000228872.4:p.Asp51Val | |
ENST00000228872.8:c.152A>T | ENSP00000228872.4:p.Asp51Val | |
ENST00000396340.1:c.152A>T | ENSP00000379629.1:p.Asp51Val | |
ENST00000442489.1:c.131A>T | ENSP00000407597.1:p.Asp44Val | |
ENST00000477087.1:n.155-834A>T | ||
NM_004064.4:c.152A>T | NP_004055.1:p.Asp51Val | |
NM_004064.5:c.152A>T MANE Select | NP_004055.1:p.Asp51Val |