HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31268803A>C , CM000668.2:g.31268803A>C | GRCh38 |
NC_000006.11:g.31236580A>C , CM000668.1:g.31236580A>C | GRCh37 |
NC_000006.10:g.31344559A>C | NCBI36 |
NG_029422.2:g.8329T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.*366T>G MANE Select | ENSP00000365402.5:n.*366T>G | |
ENST00000376228.9:c.*366T>G | ENSP00000365402.5:n.*366T>G | |
ENST00000376237.8:c.*1054T>G | ENSP00000365412.4:n.*1054T>G | |
ENST00000383329.7:c.*366T>G | ENSP00000372819.3:n.*366T>G | |
ENST00000466892.5:n.700T>G | ||
ENST00000470363.5:n.1225T>G | ||
ENST00000487245.5:n.1826T>G | ||
NM_002117.5:c.*366T>G | NP_002108.4:n.*366T>G | |
NM_002117.6:c.*366T>G MANE Select | NP_002108.4:n.*366T>G |