HGVS | Genome Assembly |
---|---|
NC_000004.12:g.119320750T>A , CM000666.2:g.119320750T>A | GRCh38 |
NC_000004.11:g.120241905T>A , CM000666.1:g.120241905T>A | GRCh37 |
NC_000004.10:g.120461353T>A | NCBI36 |
NG_011444.1:g.6412A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000274024.4:c.160A>T MANE Select | ENSP00000274024.3:p.Ser54Cys | |
ENST00000274024.3:c.160A>T | ENSP00000274024.3:p.Ser54Cys | |
NM_000134.3:c.160A>T | NP_000125.2:p.Ser54Cys | |
NM_000134.4:c.160A>T MANE Select | NP_000125.2:p.Ser54Cys |