HGVS | Genome Assembly |
---|---|
NC_000011.10:g.1075663G>A , CM000673.2:g.1075663G>A | GRCh38 |
NC_000011.9:g.1075663G>A , CM000673.1:g.1075663G>A | GRCh37 |
NC_000011.8:g.1065663G>A | NCBI36 |
NG_051929.1:g.5789G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361558.7:n.116G>A | ||
ENST00000675028.1:c.89G>A | ENSP00000502432.1:p.Arg30Gln | |
NM_002457.3:c.89G>A | NP_002448.3:p.Arg30Gln | |
NM_002457.4:c.89G>A | NP_002448.4:p.Arg30Gln |