HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154187946G>A , CM000685.2:g.154187946G>A | GRCh38 |
NC_000023.10:g.153453435G>A , CM000685.1:g.153453435G>A | GRCh37 |
NG_011606.1:g.10351G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000595290.6:c.289G>A MANE Select | ENSP00000472316.1:p.Val97Ile | |
ENST00000595290.5:c.289G>A | ENSP00000472316.1:p.Val97Ile | |
ENST00000595330.1:n.299G>A | ||
NM_000513.2:c.289G>A MANE Select | NP_000504.1:p.Val97Ile |