Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.22056604G>T , CM000671.2:g.22056604G>T | GRCh38 |
| NC_000009.11:g.22056603G>T , CM000671.1:g.22056603G>T | GRCh37 |
| NC_000009.10:g.22046603G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_003529.3:n.1388+217G>T | ||
| NR_047532.1:n.1075+217G>T | ||
| NR_047533.1:n.644+7376G>T | ||
| NR_047534.1:n.644+7376G>T | ||
| NR_047535.1:n.780+217G>T | ||
| NR_047536.1:n.644+7376G>T | ||
| NR_047537.1:n.780+217G>T | ||
| NR_047538.1:n.644+7376G>T | ||
| NR_047539.1:n.1388+217G>T | ||
| NR_047540.1:n.780+217G>T | ||
| NR_047541.1:n.780+217G>T | ||
| NR_047542.1:n.780+217G>T | ||
| NR_047543.1:n.780+217G>T | ||
| NR_120536.1:n.644+7376G>T |