Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.214087890G>A , CM000663.2:g.214087890G>A | GRCh38 |
| NC_000001.10:g.214261233G>A , CM000663.1:g.214261233G>A | GRCh37 |
| NC_000001.9:g.212327856G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011510303.1:c.-188-15452C>T | XP_011508605.1:n.-188-15452C>T | |
| XR_922584.1:n.119-15452C>T | ||
| XR_922584.2:n.261-15452C>T |