gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.83507358 (AFR)
Genomes Max Group AF
0.83507358 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.22072265A>G , CM000671.2:g.22072265A>G | GRCh38 |
| NC_000009.11:g.22072264A>G , CM000671.1:g.22072264A>G | GRCh37 |
| NC_000009.10:g.22062264A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_003529.3:n.2448+5912A>G | ||
| NR_047532.1:n.1075+15878A>G | ||
| NR_047533.1:n.645-5414A>G | ||
| NR_047534.1:n.644+23037A>G | ||
| NR_047535.1:n.780+15878A>G | ||
| NR_047536.1:n.644+23037A>G | ||
| NR_047537.1:n.780+15878A>G | ||
| NR_047538.1:n.644+23037A>G | ||
| NR_047539.1:n.2449-5414A>G | ||
| NR_047540.1:n.1049-5414A>G | ||
| NR_047541.1:n.856-5414A>G | ||
| NR_047542.1:n.781-5414A>G | ||
| NR_047543.1:n.780+15878A>G | ||
| NR_120536.1:n.644+23037A>G |