HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31268930G>A , CM000668.2:g.31268930G>A | GRCh38 |
NC_000006.11:g.31236707G>A , CM000668.1:g.31236707G>A | GRCh37 |
NC_000006.10:g.31344686G>A | NCBI36 |
NG_029422.2:g.8202C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.*239C>T MANE Select | ENSP00000365402.5:n.*239C>T | |
ENST00000376228.9:c.*239C>T | ENSP00000365402.5:n.*239C>T | |
ENST00000376237.8:c.*927C>T | ENSP00000365412.4:n.*927C>T | |
ENST00000383329.7:c.*239C>T | ENSP00000372819.3:n.*239C>T | |
ENST00000466892.5:n.573C>T | ||
ENST00000470363.5:n.1098C>T | ||
ENST00000487245.5:n.1699C>T | ||
NM_002117.5:c.*239C>T | NP_002108.4:n.*239C>T | |
NM_002117.6:c.*239C>T MANE Select | NP_002108.4:n.*239C>T |