gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.53886552 (AFR)
Genomes Max Group AF
0.53886552 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121451045T>C , CM000673.2:g.121451045T>C | GRCh38 |
| NC_000011.9:g.121321754T>C , CM000673.1:g.121321754T>C | GRCh37 |
| NC_000011.8:g.120826964T>C | NCBI36 |
| NG_023313.1:g.3794T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_948110.1:n.340-1146A>G | ||
| XR_948111.1:n.140+234A>G | ||
| XR_001748420.1:n.340-1146A>G | ||
| XR_001748421.1:n.133+234A>G | ||
| XR_948110.2:n.246-1146A>G |