Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.22084311C>G , CM000671.2:g.22084311C>G | GRCh38 |
| NC_000009.11:g.22084310C>G , CM000671.1:g.22084310C>G | GRCh37 |
| NC_000009.10:g.22074310C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_003529.3:n.2449-12061C>G | |
| NR_047532.1:n.1076-7997C>G | |
| NR_047534.1:n.645-12947C>G | |
| NR_047535.1:n.780+27924C>G | |
| NR_047536.1:n.645-28009C>G | |
| NR_047537.1:n.780+27924C>G | |
| NR_047538.1:n.644+35083C>G | |
| NR_047543.1:n.780+27924C>G | |
| NR_120536.1:n.644+35083C>G |