HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154195934G>A , CM000685.2:g.154195934G>A | GRCh38 |
NC_000023.10:g.153461425G>A , CM000685.1:g.153461425G>A | GRCh37 |
NG_011606.1:g.18341G>A |
HGVS | Amino-acid change | |
---|---|---|
NM_000513.2:c.989G>A VV | NP_000504.1:p.Arg330Gln | |
ENST00000595290.5:c.989G>A | ENSP00000472316.1:p.Arg330Gln | |
ENST00000596998.2:n.387G>A |