HGVS | Genome Assembly |
---|---|
NC_000015.10:g.74750148G>A , CM000677.2:g.74750148G>A | GRCh38 |
NC_000015.9:g.75042489G>A , CM000677.1:g.75042489G>A | GRCh37 |
NC_000015.8:g.72829542G>A | NCBI36 |
NG_008431.1:g.32607G>A | |
NG_008431.2:g.32607G>A | |
NG_061543.1:g.6304G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000343932.5:c.410G>A MANE Select | ENSP00000342007.4:p.Arg137Gln | |
ENST00000343932.4:c.410G>A | ENSP00000342007.4:p.Arg137Gln | |
NM_000761.4:c.410G>A | NP_000752.2:p.Arg137Gln | |
NM_000761.5:c.410G>A MANE Select | NP_000752.2:p.Arg137Gln |