gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.73664056 (MID)
Genomes Max Group AF
0.69028427 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.59368432G>A , CM000665.2:g.59368432G>A | GRCh38 |
| NC_000003.11:g.59354158G>A , CM000665.1:g.59354158G>A | GRCh37 |
| NC_000003.10:g.59329198G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_940880.1:n.441+6888G>A | ||
| XR_940882.1:n.376+6888G>A | ||
| XR_940883.1:n.437+6888G>A | ||
| XR_002959675.1:n.1152+6888G>A |