HGVS | Genome Assembly |
---|---|
NC_000008.11:g.19951794T>A , CM000670.2:g.19951794T>A | GRCh38 |
NC_000008.10:g.19809305T>A , CM000670.1:g.19809305T>A | GRCh37 |
NC_000008.9:g.19853585T>A | NCBI36 |
NG_008855.1:g.17724T>A | |
NG_008855.2:g.55078T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000650287.1:c.275T>A MANE Select | ENSP00000497642.1:p.Val92Glu | |
ENST00000311322.8:c.275T>A | ENSP00000309757.6:p.Val92Glu | |
ENST00000520959.5:c.47T>A | ENSP00000428496.1:p.Val16Glu | |
ENST00000521994.1:n.532T>A | ||
ENST00000522701.5:c.275T>A | ENSP00000428557.1:p.Val92Glu | |
ENST00000524029.5:c.275T>A | ENSP00000428237.1:p.Val92Glu | |
NM_000237.2:c.275T>A | NP_000228.1:p.Val92Glu | |
NM_000237.3:c.275T>A MANE Select | NP_000228.1:p.Val92Glu |