HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31268958G>A , CM000668.2:g.31268958G>A | GRCh38 |
NC_000006.11:g.31236735G>A , CM000668.1:g.31236735G>A | GRCh37 |
NC_000006.10:g.31344714G>A | NCBI36 |
NG_029422.2:g.8174C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.*211C>T MANE Select | ENSP00000365402.5:n.*211C>T | |
ENST00000376228.9:c.*211C>T | ENSP00000365402.5:n.*211C>T | |
ENST00000376237.8:c.*899C>T | ENSP00000365412.4:n.*899C>T | |
ENST00000383329.7:c.*211C>T | ENSP00000372819.3:n.*211C>T | |
ENST00000466892.5:n.545C>T | ||
ENST00000470363.5:n.1070C>T | ||
ENST00000487245.5:n.1671C>T | ||
NM_002117.5:c.*211C>T | NP_002108.4:n.*211C>T | |
NM_002117.6:c.*211C>T MANE Select | NP_002108.4:n.*211C>T |