gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.47829126 (NFE)
Genomes Max Group AF
0.47829126 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49832684G>A , CM000674.2:g.49832684G>A | GRCh38 |
| NC_000012.11:g.50226467G>A , CM000674.1:g.50226467G>A | GRCh37 |
| NC_000012.10:g.48512734G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_027499.1:n.355+3601G>A | ||
| NR_027500.1:n.351+3601G>A | ||
| NR_027501.1:n.351+3601G>A |