Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.40464141A>G , CM000674.2:g.40464141A>G | GRCh38 |
| NC_000012.11:g.40857943A>G , CM000674.1:g.40857943A>G | GRCh37 |
| NC_000012.10:g.39144210A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_173600.2:c.5285A>G | NP_775871.2:p.Glu1762Gly |
| ENST00000454784.10:c.5285A>G | ENSP00000508949.1:p.Glu1762Gly |
| ENST00000454784.9:n.5331A>G |