HGVS | Genome Assembly |
---|---|
NC_000008.11:g.19951923T>A , CM000670.2:g.19951923T>A | GRCh38 |
NC_000008.10:g.19809434T>A , CM000670.1:g.19809434T>A | GRCh37 |
NC_000008.9:g.19853714T>A | NCBI36 |
NG_008855.1:g.17853T>A | |
NG_008855.2:g.55207T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000650287.1:c.404T>A MANE Select | ENSP00000497642.1:p.Val135Glu | |
ENST00000311322.8:c.404T>A | ENSP00000309757.6:p.Val135Glu | |
ENST00000520959.5:c.176T>A | ENSP00000428496.1:p.Val59Glu | |
NM_000237.2:c.404T>A | NP_000228.1:p.Val135Glu | |
NM_000237.3:c.404T>A MANE Select | NP_000228.1:p.Val135Glu |