Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.22098575A>G , CM000671.2:g.22098575A>G | GRCh38 |
| NC_000009.11:g.22098574A>G , CM000671.1:g.22098574A>G | GRCh37 |
| NC_000009.10:g.22088574A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_003529.3:n.2698+1211A>G | |
| NR_047532.1:n.1487+1211A>G | |
| NR_047534.1:n.751+1211A>G | |
| NR_047535.1:n.781-13745A>G | |
| NR_047536.1:n.645-13745A>G | |
| NR_047537.1:n.781-21625A>G | |
| NR_047538.1:n.645-21625A>G | |
| NR_047543.1:n.781-13745A>G | |
| NR_120536.1:n.645-21929A>G |