Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.22088270C= , CM000671.2:g.22088270C= | GRCh38 |
| NC_000009.11:g.22088269C= , CM000671.1:g.22088269C= | GRCh37 |
| NC_000009.10:g.22078269C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_003529.3:n.2449-8102C= | ||
| NR_047532.1:n.1076-4038C= | ||
| NR_047534.1:n.645-8988C= | ||
| NR_047535.1:n.781-24050C= | ||
| NR_047536.1:n.645-24050C= | ||
| NR_047537.1:n.780+31883C= | ||
| NR_047538.1:n.645-31930C= | ||
| NR_047543.1:n.781-24050C= | ||
| NR_120536.1:n.645-32234C= |