gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.76719031 (EAS)
Genomes Max Group AF
0.76719031 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89675088A>G , CM000678.2:g.89675088A>G | GRCh38 |
| NC_000016.9:g.89741496A>G , CM000678.1:g.89741496A>G | GRCh37 |
| NC_000016.8:g.88268997A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011523409.1:c.-1092+1795A>G | XP_011521711.1:n.-1092+1795A>G | |
| XM_011523418.1:c.-1092+1795A>G | XP_011521720.1:n.-1092+1795A>G | |
| XR_933471.1:n.855+1795A>G |