Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.22056293C>A , CM000671.2:g.22056293C>A | GRCh38 |
| NC_000009.11:g.22056292C>A , CM000671.1:g.22056292C>A | GRCh37 |
| NC_000009.10:g.22046292C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_003529.3:n.1294C>A | ||
| NR_047532.1:n.981C>A | ||
| NR_047533.1:n.644+7065C>A | ||
| NR_047534.1:n.644+7065C>A | ||
| NR_047535.1:n.686C>A | ||
| NR_047536.1:n.644+7065C>A | ||
| NR_047537.1:n.686C>A | ||
| NR_047538.1:n.644+7065C>A | ||
| NR_047539.1:n.1294C>A | ||
| NR_047540.1:n.686C>A | ||
| NR_047541.1:n.686C>A | ||
| NR_047542.1:n.686C>A | ||
| NR_047543.1:n.686C>A | ||
| NR_120536.1:n.644+7065C>A |