gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.20645632 (NFE)
Genomes Max Group AF
0.20645632 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6471416A>G , CM000674.2:g.6471416A>G | GRCh38 |
| NC_000012.11:g.6580582A>G , CM000674.1:g.6580582A>G | GRCh37 |
| NC_000012.10:g.6450843A>G | NCBI36 |
| NG_042188.1:g.4484T>C | |
| NG_042188.2:g.4484T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001748777.2:n.2683A>G | ||
| XR_001748778.2:n.2680A>G |