gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.78686969 (EAS)
Genomes Max Group AF
0.78686969 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.65861834A>G , CM000669.2:g.65861834A>G | GRCh38 |
| NC_000007.13:g.65326821A>G , CM000669.1:g.65326821A>G | GRCh37 |
| NC_000007.12:g.64964256A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011515830.1:c.65-9811A>G | XP_011514132.1:n.65-9811A>G | |
| XR_927616.1:n.49-1024T>C |