gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.81500943 (EAS)
Genomes Max Group AF
0.81500943 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.165057942T>G , CM000667.2:g.165057942T>G | GRCh38 |
| NC_000005.9:g.164484948T>G , CM000667.1:g.164484948T>G | GRCh37 |
| NC_000005.8:g.164417526T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_941179.1:n.356+50530T>G | ||
| XR_001742489.1:n.2476T>G |