HGVS | Genome Assembly |
---|---|
NC_000022.11:g.45293256G>A , CM000684.2:g.45293256G>A | GRCh38 |
NC_000022.10:g.45689137G>A , CM000684.1:g.45689137G>A | GRCh37 |
NC_000022.9:g.44067801G>A | NCBI36 |
NG_016203.1:g.13270G>A | |
NG_016203.2:g.13270G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000216211.9:c.647G>A MANE Select | ENSP00000216211.4:p.Gly216Asp | |
ENST00000216211.8:c.647G>A | ENSP00000216211.4:p.Gly216Asp | |
ENST00000396082.2:c.284G>A | ENSP00000379391.2:p.Gly95Asp | |
NM_001167574.1:c.284G>A | NP_001161046.1:p.Gly95Asp | |
NM_006953.3:c.647G>A | NP_008884.1:p.Gly216Asp | |
XM_011530364.1:c.653G>A | XP_011528666.1:p.Gly218Asp | |
XM_011530365.1:c.290G>A | XP_011528667.1:p.Gly97Asp | |
NM_006953.4:c.647G>A MANE Select | NP_008884.1:p.Gly216Asp | |
NM_001167574.2:c.284G>A | NP_001161046.1:p.Gly95Asp |