HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154188036G>A , CM000685.2:g.154188036G>A | GRCh38 |
NC_000023.10:g.153453525G>A , CM000685.1:g.153453525G>A | GRCh37 |
NG_011606.1:g.10441G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000595290.6:c.379G>A MANE Select | ENSP00000472316.1:p.Val127Ile | |
ENST00000595290.5:c.379G>A | ENSP00000472316.1:p.Val127Ile | |
ENST00000595330.1:n.389G>A | ||
NM_000513.2:c.379G>A MANE Select | NP_000504.1:p.Val127Ile |