Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58692356G>A , CM000679.2:g.58692356G>A | GRCh38 |
| NC_000017.10:g.56769717G>A , CM000679.1:g.56769717G>A | GRCh37 |
| NC_000017.9:g.54124716G>A | NCBI36 |
| NG_023199.1:g.4755G>A , LRG_314:g.4755G>A | |
| NG_047169.1:g.4724C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_006722001.4:c.-288G>A | XP_006722064.1:n.-288G>A | |
| XM_006722002.4:c.-288G>A | XP_006722065.1:n.-288G>A | |
| XR_934513.3:n.217G>A | ||
| XR_934514.3:n.217G>A |