gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.2881605 (EAS)
Genomes Max Group AF
0.2881605 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10869816G>T , CM000682.2:g.10869816G>T | GRCh38 |
| NC_000020.10:g.10850464G>T , CM000682.1:g.10850464G>T | GRCh37 |
| NC_000020.9:g.10798464G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_937255.1:n.2829+2509G>T |