gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.15668986 (MID)
Genomes Max Group AF
0.14452902 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.177573909A>G , CM000665.2:g.177573909A>G | GRCh38 |
| NC_000003.11:g.177291697A>G , CM000665.1:g.177291697A>G | GRCh37 |
| NC_000003.10:g.178774391A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_047568.1:n.289+34416A>G | ||
| XR_924737.1:n.114-2543T>C |