Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.22114983C>A , CM000671.2:g.22114983C>A | GRCh38 |
| NC_000009.11:g.22114982C>A , CM000671.1:g.22114982C>A | GRCh37 |
| NC_000009.10:g.22104982C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_003529.3:n.2908+1184C>A | ||
| NR_047532.1:n.1697+1184C>A | ||
| NR_047534.1:n.961+1184C>A | ||
| NR_047535.1:n.856+2588C>A | ||
| NR_047536.1:n.720+2588C>A | ||
| NR_047537.1:n.781-5217C>A | ||
| NR_047538.1:n.645-5217C>A | ||
| NR_047543.1:n.990+1184C>A | ||
| NR_120536.1:n.645-5521C>A |