HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31269073C>A , CM000668.2:g.31269073C>A | GRCh38 |
NC_000006.11:g.31236850C>A , CM000668.1:g.31236850C>A | GRCh37 |
NC_000006.10:g.31344829C>A | NCBI36 |
NG_029422.2:g.8059G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000376228.10:c.*96G>T MANE Select | ENSP00000365402.5:n.*96G>T | |
ENST00000376228.9:c.*96G>T | ENSP00000365402.5:n.*96G>T | |
ENST00000376237.8:c.*784G>T | ENSP00000365412.4:n.*784G>T | |
ENST00000383329.7:c.*96G>T | ENSP00000372819.3:n.*96G>T | |
ENST00000466892.5:n.430G>T | ||
ENST00000470363.5:n.955G>T | ||
ENST00000487245.5:n.1556G>T | ||
NM_002117.5:c.*96G>T | NP_002108.4:n.*96G>T | |
NM_002117.6:c.*96G>T MANE Select | NP_002108.4:n.*96G>T |