Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.22115106C= , CM000671.2:g.22115106C= | GRCh38 |
| NC_000009.11:g.22115105C= , CM000671.1:g.22115105C= | GRCh37 |
| NC_000009.10:g.22105105C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_003529.3:n.2908+1307C= | ||
| NR_047532.1:n.1697+1307C= | ||
| NR_047534.1:n.961+1307C= | ||
| NR_047535.1:n.856+2711C= | ||
| NR_047536.1:n.720+2711C= | ||
| NR_047537.1:n.781-5094C= | ||
| NR_047538.1:n.645-5094C= | ||
| NR_047543.1:n.990+1307C= | ||
| NR_120536.1:n.645-5398C= |