gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.29360042 (NFE)
Genomes Max Group AF
0.29360042 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160071368A>G , CM000663.2:g.160071368A>G | GRCh38 |
| NC_000001.10:g.160041158A>G , CM000663.1:g.160041158A>G | GRCh37 |
| NC_000001.9:g.158307782A>G | NCBI36 |
| NG_016411.1:g.3804T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_922197.1:n.498+6337A>G | ||
| XM_017001247.1:c.-4045+6337A>G | XP_016856736.1:n.-4045+6337A>G |