HGVS | Genome Assembly |
---|---|
NC_000008.11:g.19951873G>A , CM000670.2:g.19951873G>A | GRCh38 |
NC_000008.10:g.19809384G>A , CM000670.1:g.19809384G>A | GRCh37 |
NC_000008.9:g.19853664G>A | NCBI36 |
NG_008855.1:g.17803G>A | |
NG_008855.2:g.55157G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000650287.1:c.354G>A MANE Select | ENSP00000497642.1:p.Gln118= | |
ENST00000311322.8:c.354G>A | ENSP00000309757.6:p.Gln118= | |
ENST00000520959.5:c.126G>A | ENSP00000428496.1:p.Gln42= | |
ENST00000524029.5:c.354G>A | ENSP00000428237.1:p.Gln118= | |
NM_000237.2:c.354G>A | NP_000228.1:p.Gln118= | |
NM_000237.3:c.354G>A MANE Select | NP_000228.1:p.Gln118= |