gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.66255418 (NFE)
Genomes Max Group AF
0.66255418 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.68614263A>G , CM000671.2:g.68614263A>G | GRCh38 |
| NC_000009.11:g.71229179A>G , CM000671.1:g.71229179A>G | GRCh37 |
| NC_000009.10:g.70418999A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_929903.1:n.450-11378A>G | ||
| XR_001746701.2:n.343-11378A>G |