HGVS | Genome Assembly |
---|---|
NC_000012.12:g.114674679G>A , CM000674.2:g.114674679G>A | GRCh38 |
NC_000012.11:g.115112484G>A , CM000674.1:g.115112484G>A | GRCh37 |
NC_000012.10:g.113596867G>A | NCBI36 |
NG_008315.1:g.14486C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000349155.7:c.1196C>T MANE Select | ENSP00000257567.2:p.Ala399Val | |
ENST00000257566.7:c.1256C>T | ENSP00000257566.3:p.Ala419Val | |
ENST00000349155.6:c.1196C>T | ENSP00000257567.2:p.Ala399Val | |
ENST00000613550.1:c.1196C>T | ENSP00000480048.1:p.Ala399Val | |
NM_005996.3:c.1196C>T | NP_005987.3:p.Ala399Val | |
NM_016569.3:c.1256C>T | NP_057653.3:p.Ala419Val | |
NM_005996.4:c.1196C>T MANE Select | NP_005987.3:p.Ala399Val | |
NM_016569.4:c.1256C>T | NP_057653.3:p.Ala419Val |