HGVS | Genome Assembly |
---|---|
NC_000012.12:g.114674680C>T , CM000674.2:g.114674680C>T | GRCh38 |
NC_000012.11:g.115112485C>T , CM000674.1:g.115112485C>T | GRCh37 |
NC_000012.10:g.113596868C>T | NCBI36 |
NG_008315.1:g.14485G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000349155.7:c.1195G>A MANE Select | ENSP00000257567.2:p.Ala399Thr | |
ENST00000257566.7:c.1255G>A | ENSP00000257566.3:p.Ala419Thr | |
ENST00000349155.6:c.1195G>A | ENSP00000257567.2:p.Ala399Thr | |
ENST00000613550.1:c.1195G>A | ENSP00000480048.1:p.Ala399Thr | |
NM_005996.3:c.1195G>A | NP_005987.3:p.Ala399Thr | |
NM_016569.3:c.1255G>A | NP_057653.3:p.Ala419Thr | |
NM_005996.4:c.1195G>A MANE Select | NP_005987.3:p.Ala399Thr | |
NM_016569.4:c.1255G>A | NP_057653.3:p.Ala419Thr |