HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31268977A>C , CM000668.2:g.31268977A>C | GRCh38 |
NC_000006.11:g.31236754A>C , CM000668.1:g.31236754A>C | GRCh37 |
NC_000006.10:g.31344733A>C | NCBI36 |
NG_029422.2:g.8155T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.*192T>G MANE Select | ENSP00000365402.5:n.*192T>G | |
ENST00000376228.9:c.*192T>G | ENSP00000365402.5:n.*192T>G | |
ENST00000376237.8:c.*880T>G | ENSP00000365412.4:n.*880T>G | |
ENST00000383329.7:c.*192T>G | ENSP00000372819.3:n.*192T>G | |
ENST00000466892.5:n.526T>G | ||
ENST00000470363.5:n.1051T>G | ||
ENST00000487245.5:n.1652T>G | ||
NM_002117.5:c.*192T>G | NP_002108.4:n.*192T>G | |
NM_002117.6:c.*192T>G MANE Select | NP_002108.4:n.*192T>G |