Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.22114518G>A , CM000671.2:g.22114518G>A | GRCh38 |
| NC_000009.11:g.22114517G>A , CM000671.1:g.22114517G>A | GRCh37 |
| NC_000009.10:g.22104517G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_003529.3:n.2908+719G>A | ||
| NR_047532.1:n.1697+719G>A | ||
| NR_047534.1:n.961+719G>A | ||
| NR_047535.1:n.856+2123G>A | ||
| NR_047536.1:n.720+2123G>A | ||
| NR_047537.1:n.781-5682G>A | ||
| NR_047538.1:n.645-5682G>A | ||
| NR_047543.1:n.990+719G>A | ||
| NR_120536.1:n.645-5986G>A |