gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.56152933 (MID)
Genomes Max Group AF
0.5062289 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.22098620A>G , CM000671.2:g.22098620A>G | GRCh38 |
| NC_000009.11:g.22098619A>G , CM000671.1:g.22098619A>G | GRCh37 |
| NC_000009.10:g.22088619A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_003529.3:n.2698+1256A>G | ||
| NR_047532.1:n.1487+1256A>G | ||
| NR_047534.1:n.751+1256A>G | ||
| NR_047535.1:n.781-13700A>G | ||
| NR_047536.1:n.645-13700A>G | ||
| NR_047537.1:n.781-21580A>G | ||
| NR_047538.1:n.645-21580A>G | ||
| NR_047543.1:n.781-13700A>G | ||
| NR_120536.1:n.645-21884A>G |