Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.22062251G>C , CM000671.2:g.22062251G>C | GRCh38 |
| NC_000009.11:g.22062250G>C , CM000671.1:g.22062250G>C | GRCh37 |
| NC_000009.10:g.22052250G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_003529.3:n.2158+225G>C | ||
| NR_047532.1:n.1075+5864G>C | ||
| NR_047533.1:n.644+13023G>C | ||
| NR_047534.1:n.644+13023G>C | ||
| NR_047535.1:n.780+5864G>C | ||
| NR_047536.1:n.644+13023G>C | ||
| NR_047537.1:n.780+5864G>C | ||
| NR_047538.1:n.644+13023G>C | ||
| NR_047539.1:n.2158+225G>C | ||
| NR_047540.1:n.854+225G>C | ||
| NR_047541.1:n.781-1693G>C | ||
| NR_047542.1:n.780+5864G>C | ||
| NR_047543.1:n.780+5864G>C | ||
| NR_120536.1:n.644+13023G>C |