gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.20376934 (AFR)
Genomes Max Group AF
0.20376934 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.137859073A>G , CM000667.2:g.137859073A>G | GRCh38 |
| NC_000005.9:g.137194762A>G , CM000667.1:g.137194762A>G | GRCh37 |
| NC_000005.8:g.137222661A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_948815.1:n.410T>C | ||
| XR_948816.1:n.248T>C | ||
| XR_001742470.2:n.2258-59A>G | ||
| XR_001742471.2:n.432-59A>G | ||
| XR_948815.2:n.537T>C |