gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.20250757 (MID)
Genomes Max Group AF
0.18304987 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.150269889G>A , CM000664.2:g.150269889G>A | GRCh38 |
| NC_000002.11:g.151126403G>A , CM000664.1:g.151126403G>A | GRCh37 |
| NC_000002.10:g.150834649G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_923469.1:n.228+55477G>A | ||
| XR_923469.2:n.249+55477G>A |