Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40212608G>A , CM000677.2:g.40212608G>A | GRCh38 |
| NC_000015.9:g.40504809G>A , CM000677.1:g.40504809G>A | GRCh37 |
| NC_000015.8:g.38292101G>A | NCBI36 |
| NG_016338.1:g.56600G>A , LRG_489:g.56600G>A | |
| NG_033169.1:g.181G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001211.6:c.2495G>A MANE Select | NP_001202.5:p.Cys832Tyr |
| ENST00000287598.11:c.2495G>A MANE Select | ENSP00000287598.7:p.Cys832Tyr |
| NM_001211.5:c.2495G>A , LRG_489t1:c.2495G>A | NP_001202.4:p.Cys832Tyr |
| ENST00000287598.10:c.2495G>A | ENSP00000287598.6:p.Cys832Tyr |
| ENST00000412359.7:c.2537G>A | ENSP00000398470.3:p.Cys846Tyr |
| XR_001751506.1:n.217+26877C>T |