Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.22116113C>G , CM000671.2:g.22116113C>G | GRCh38 |
| NC_000009.11:g.22116112C>G , CM000671.1:g.22116112C>G | GRCh37 |
| NC_000009.10:g.22106112C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_003529.3:n.2908+2314C>G | ||
| NR_047532.1:n.1697+2314C>G | ||
| NR_047534.1:n.961+2314C>G | ||
| NR_047535.1:n.857-2531C>G | ||
| NR_047536.1:n.721-2531C>G | ||
| NR_047537.1:n.781-4087C>G | ||
| NR_047538.1:n.645-4087C>G | ||
| NR_047543.1:n.990+2314C>G | ||
| NR_120536.1:n.645-4391C>G |