gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.50500802 (NFE)
Genomes Max Group AF
0.50500802 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102827993G>A , CM000673.2:g.102827993G>A | GRCh38 |
| NC_000011.9:g.102698724G>A , CM000673.1:g.102698724G>A | GRCh37 |
| NC_000011.8:g.102203934G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371455.7:n.424-2739G>A | ||
| ENST00000525739.6:n.683-2739G>A | ||
| ENST00000544704.1:n.444-2739G>A | ||
| NR_038390.1:n.683-2739G>A |