HGVS | Genome Assembly |
---|---|
NC_000010.11:g.122506703G>A , CM000672.2:g.122506703G>A | GRCh38 |
NC_000010.10:g.124266219G>A , CM000672.1:g.124266219G>A | GRCh37 |
NC_000010.9:g.124256209G>A | NCBI36 |
NG_011554.1:g.50179G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000368984.8:c.790G>A MANE Select | ENSP00000357980.3:p.Val264Ile | |
ENST00000648167.1:c.472G>A | ENSP00000498033.1:p.Val158Ile | |
ENST00000368984.7:c.790G>A | ENSP00000357980.3:p.Val264Ile | |
ENST00000420892.1:c.13G>A | ENSP00000412676.1:p.Val5Ile | |
NM_002775.4:c.790G>A | NP_002766.1:p.Val264Ile | |
NM_002775.5:c.790G>A MANE Select | NP_002766.1:p.Val264Ile |