gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.27496611 (SAS)
Genomes Max Group AF
0.27496611 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.32008727G>A , CM000683.2:g.32008727G>A | GRCh38 |
| NC_000021.8:g.33381040G>A , CM000683.1:g.33381040G>A | GRCh37 |
| NC_000021.7:g.32302911G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000439107.1:c.328+12779G>A | ENSP00000408219.1:n.328+12779G>A |