Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.96235727G>A , CM000670.2:g.96235727G>A | GRCh38 |
| NC_000008.10:g.97247955G>A , CM000670.1:g.97247955G>A | GRCh37 |
| NC_000008.9:g.97317131G>A | NCBI36 |
| NG_008237.1:g.4908C>T | |
| NG_008237.2:g.4806C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XR_242407.3:n.54G>A | |
| XR_242407.5:n.74G>A | |
| XR_242408.3:n.67+33G>A | |
| XR_242408.5:n.85+33G>A |