Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.22116110G>A , CM000671.2:g.22116110G>A | GRCh38 |
| NC_000009.11:g.22116109G>A , CM000671.1:g.22116109G>A | GRCh37 |
| NC_000009.10:g.22106109G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_003529.3:n.2908+2311G>A | ||
| NR_047532.1:n.1697+2311G>A | ||
| NR_047534.1:n.961+2311G>A | ||
| NR_047535.1:n.857-2534G>A | ||
| NR_047536.1:n.721-2534G>A | ||
| NR_047537.1:n.781-4090G>A | ||
| NR_047538.1:n.645-4090G>A | ||
| NR_047543.1:n.990+2311G>A | ||
| NR_120536.1:n.645-4394G>A |