HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31268892T>A , CM000668.2:g.31268892T>A | GRCh38 |
NC_000006.11:g.31236669T>A , CM000668.1:g.31236669T>A | GRCh37 |
NC_000006.10:g.31344648T>A | NCBI36 |
NG_029422.2:g.8240A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.*277A>T MANE Select | ENSP00000365402.5:n.*277A>T | |
ENST00000376228.9:c.*277A>T | ENSP00000365402.5:n.*277A>T | |
ENST00000376237.8:c.*965A>T | ENSP00000365412.4:n.*965A>T | |
ENST00000383329.7:c.*277A>T | ENSP00000372819.3:n.*277A>T | |
ENST00000466892.5:n.611A>T | ||
ENST00000470363.5:n.1136A>T | ||
ENST00000487245.5:n.1737A>T | ||
NM_002117.5:c.*277A>T | NP_002108.4:n.*277A>T | |
NM_002117.6:c.*277A>T MANE Select | NP_002108.4:n.*277A>T |