HGVS | Genome Assembly |
---|---|
NC_000006.12:g.1612943C= , CM000668.2:g.1612943C= | GRCh38 |
NC_000006.11:g.1613178C= , CM000668.1:g.1613178C= | GRCh37 |
NC_000006.10:g.1558177C= | NCBI36 |
NG_009368.1:g.7498C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000645831.2:c.*836C= MANE Select | ENSP00000493906.1:n.*836C= | |
ENST00000380874.3:c.*836C= | ENSP00000370256.2:n.*836C= | |
NM_001453.2:c.2498C= | NP_001444.2:n.2498C= | |
NM_001453.3:c.*836C= MANE Select | NP_001444.2:n.*836C= |