Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58281637G>T , CM000679.2:g.58281637G>T | GRCh38 |
| NC_000017.10:g.56358998G>T , CM000679.1:g.56358998G>T | GRCh37 |
| NC_000017.9:g.53713997G>T | NCBI36 |
| NG_009629.1:g.4299C>A , LRG_84:g.4299C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011524821.1:c.71-568C>A | XP_011523123.1:n.71-568C>A | |
| XM_011524823.1:c.71-568C>A | XP_011523125.1:n.71-568C>A |