HGVS | Genome Assembly |
---|---|
NC_000004.12:g.119320545T>A , CM000666.2:g.119320545T>A | GRCh38 |
NC_000004.11:g.120241700T>A , CM000666.1:g.120241700T>A | GRCh37 |
NC_000004.10:g.120461148T>A | NCBI36 |
NG_011444.1:g.6617A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000274024.4:c.240+125A>T MANE Select | ENSP00000274024.3:n.240+125A>T | |
ENST00000274024.3:c.240+125A>T | ENSP00000274024.3:n.240+125A>T | |
NM_000134.3:c.240+125A>T | NP_000125.2:n.240+125A>T | |
NM_000134.4:c.240+125A>T MANE Select | NP_000125.2:n.240+125A>T |