gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.26263543 (EAS)
Genomes Max Group AF
0.26263543 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.78368287A>G , CM000675.2:g.78368287A>G | GRCh38 |
| NC_000013.10:g.78942422A>G , CM000675.1:g.78942422A>G | GRCh37 |
| NC_000013.9:g.77840423A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_047001.1:n.384+93950A>G |