Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128241246G>A , CM000669.2:g.128241246G>A | GRCh38 |
| NC_000007.13:g.127881299G>A , CM000669.1:g.127881299G>A | GRCh37 |
| NC_000007.12:g.127668535G>A | NCBI36 |
| NG_007450.1:g.4969G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XM_005250340.3:c.-89G>A | XP_005250397.1:n.-89G>A |
| XM_005250340.5:c.-89G>A | XP_005250397.1:n.-89G>A |