gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.8543993 (EAS)
Genomes Max Group AF
0.8543993 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.4674350G>A , CM000672.2:g.4674350G>A | GRCh38 |
| NC_000010.10:g.4716542G>A , CM000672.1:g.4716542G>A | GRCh37 |
| NC_000010.9:g.4706542G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_024475.1:n.22+3699C>T | ||
| XR_930595.1:n.1757-2315G>A | ||
| XR_930596.1:n.1746-2315G>A | ||
| XR_001747338.1:n.1757-2315G>A |