Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.22062135G>T , CM000671.2:g.22062135G>T | GRCh38 |
| NC_000009.11:g.22062134G>T , CM000671.1:g.22062134G>T | GRCh37 |
| NC_000009.10:g.22052134G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_003529.3:n.2158+109G>T | |
| NR_047532.1:n.1075+5748G>T | |
| NR_047533.1:n.644+12907G>T | |
| NR_047534.1:n.644+12907G>T | |
| NR_047535.1:n.780+5748G>T | |
| NR_047536.1:n.644+12907G>T | |
| NR_047537.1:n.780+5748G>T | |
| NR_047538.1:n.644+12907G>T | |
| NR_047539.1:n.2158+109G>T | |
| NR_047540.1:n.854+109G>T | |
| NR_047541.1:n.781-1809G>T | |
| NR_047542.1:n.780+5748G>T | |
| NR_047543.1:n.780+5748G>T | |
| NR_120536.1:n.644+12907G>T |