HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31268916G>C , CM000668.2:g.31268916G>C | GRCh38 |
NC_000006.11:g.31236693G>C , CM000668.1:g.31236693G>C | GRCh37 |
NC_000006.10:g.31344672G>C | NCBI36 |
NG_029422.2:g.8216C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000376228.10:c.*253C>G MANE Select | ENSP00000365402.5:n.*253C>G | |
ENST00000376228.9:c.*253C>G | ENSP00000365402.5:n.*253C>G | |
ENST00000376237.8:c.*941C>G | ENSP00000365412.4:n.*941C>G | |
ENST00000383329.7:c.*253C>G | ENSP00000372819.3:n.*253C>G | |
ENST00000466892.5:n.587C>G | ||
ENST00000470363.5:n.1112C>G | ||
ENST00000487245.5:n.1713C>G | ||
NM_002117.5:c.*253C>G | NP_002108.4:n.*253C>G | |
NM_002117.6:c.*253C>G MANE Select | NP_002108.4:n.*253C>G |