HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31268891T>G , CM000668.2:g.31268891T>G | GRCh38 |
NC_000006.11:g.31236668T>G , CM000668.1:g.31236668T>G | GRCh37 |
NC_000006.10:g.31344647T>G | NCBI36 |
NG_029422.2:g.8241A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.*278A>C MANE Select | ENSP00000365402.5:n.*278A>C | |
ENST00000376228.9:c.*278A>C | ENSP00000365402.5:n.*278A>C | |
ENST00000376237.8:c.*966A>C | ENSP00000365412.4:n.*966A>C | |
ENST00000383329.7:c.*278A>C | ENSP00000372819.3:n.*278A>C | |
ENST00000466892.5:n.612A>C | ||
ENST00000470363.5:n.1137A>C | ||
ENST00000487245.5:n.1738A>C | ||
NM_002117.5:c.*278A>C | NP_002108.4:n.*278A>C | |
NM_002117.6:c.*278A>C MANE Select | NP_002108.4:n.*278A>C |