HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31269409C>A , CM000668.2:g.31269409C>A | GRCh38 |
NC_000006.11:g.31237186C>A , CM000668.1:g.31237186C>A | GRCh37 |
NC_000006.10:g.31345165C>A | NCBI36 |
NG_029422.2:g.7723G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.1049-24G>T MANE Select | ENSP00000365402.5:n.1049-24G>T | |
ENST00000376228.9:c.1049-24G>T | ENSP00000365402.5:n.1049-24G>T | |
ENST00000376237.8:c.*636-24G>T | ENSP00000365412.4:n.*636-24G>T | |
ENST00000383329.7:c.1067-24G>T | ENSP00000372819.3:n.1067-24G>T | |
ENST00000466892.5:n.258G>T | ||
ENST00000470363.5:n.807-24G>T | ||
ENST00000487245.5:n.1408-24G>T | ||
NM_002117.5:c.1049-24G>T | NP_002108.4:n.1049-24G>T | |
NM_002117.6:c.1049-24G>T MANE Select | NP_002108.4:n.1049-24G>T |