Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40202609G>A , CM000677.2:g.40202609G>A | GRCh38 |
| NC_000015.9:g.40494810G>A , CM000677.1:g.40494810G>A | GRCh37 |
| NC_000015.8:g.38282102G>A | NCBI36 |
| NG_016338.1:g.46601G>A , LRG_489:g.46601G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001211.6:c.1649G>A MANE Select | NP_001202.5:p.Arg550Gln |
| ENST00000287598.11:c.1649G>A MANE Select | ENSP00000287598.7:p.Arg550Gln |
| NM_001211.5:c.1649G>A , LRG_489t1:c.1649G>A | NP_001202.4:p.Arg550Gln |
| ENST00000287598.10:c.1649G>A | ENSP00000287598.6:p.Arg550Gln |
| ENST00000412359.7:c.1691G>A | ENSP00000398470.3:p.Arg564Gln |
| ENST00000558972.1:n.454G>A | |
| ENST00000559733.5:c.761G>A | |
| XR_001751506.1:n.218-22408C>T |