HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31268847C>A , CM000668.2:g.31268847C>A | GRCh38 |
NC_000006.11:g.31236624C>A , CM000668.1:g.31236624C>A | GRCh37 |
NC_000006.10:g.31344603C>A | NCBI36 |
NG_029422.2:g.8285G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.*322G>T MANE Select | ENSP00000365402.5:n.*322G>T | |
ENST00000376228.9:c.*322G>T | ENSP00000365402.5:n.*322G>T | |
ENST00000376237.8:c.*1010G>T | ENSP00000365412.4:n.*1010G>T | |
ENST00000383329.7:c.*322G>T | ENSP00000372819.3:n.*322G>T | |
ENST00000466892.5:n.656G>T | ||
ENST00000470363.5:n.1181G>T | ||
ENST00000487245.5:n.1782G>T | ||
NM_002117.5:c.*322G>T | NP_002108.4:n.*322G>T | |
NM_002117.6:c.*322G>T MANE Select | NP_002108.4:n.*322G>T |