HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154188038C>T , CM000685.2:g.154188038C>T | GRCh38 |
NC_000023.10:g.153453527C>T , CM000685.1:g.153453527C>T | GRCh37 |
NG_011606.1:g.10443C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000595290.6:c.381C>T MANE Select | ENSP00000472316.1:p.Val127= | |
ENST00000595290.5:c.381C>T | ENSP00000472316.1:p.Val127= | |
ENST00000595330.1:n.391C>T | ||
NM_000513.2:c.381C>T MANE Select | NP_000504.1:p.Val127= |