Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.22116077C= , CM000671.2:g.22116077C= | GRCh38 |
| NC_000009.11:g.22116076C= , CM000671.1:g.22116076C= | GRCh37 |
| NC_000009.10:g.22106076C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_003529.3:n.2908+2278C= | ||
| NR_047532.1:n.1697+2278C= | ||
| NR_047534.1:n.961+2278C= | ||
| NR_047535.1:n.857-2567C= | ||
| NR_047536.1:n.721-2567C= | ||
| NR_047537.1:n.781-4123C= | ||
| NR_047538.1:n.645-4123C= | ||
| NR_047543.1:n.990+2278C= | ||
| NR_120536.1:n.645-4427C= |