gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.22072302G>A , CM000671.2:g.22072302G>A | GRCh38 |
| NC_000009.11:g.22072301G>A , CM000671.1:g.22072301G>A | GRCh37 |
| NC_000009.10:g.22062301G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_003529.3:n.2448+5949G>A | ||
| NR_047532.1:n.1075+15915G>A | ||
| NR_047533.1:n.645-5377G>A | ||
| NR_047534.1:n.644+23074G>A | ||
| NR_047535.1:n.780+15915G>A | ||
| NR_047536.1:n.644+23074G>A | ||
| NR_047537.1:n.780+15915G>A | ||
| NR_047538.1:n.644+23074G>A | ||
| NR_047539.1:n.2449-5377G>A | ||
| NR_047540.1:n.1049-5377G>A | ||
| NR_047541.1:n.856-5377G>A | ||
| NR_047542.1:n.781-5377G>A | ||
| NR_047543.1:n.780+15915G>A | ||
| NR_120536.1:n.644+23074G>A |