gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.47112503 (NFE)
Genomes Max Group AF
0.47112503 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.101153551A>G , CM000673.2:g.101153551A>G | GRCh38 |
| NC_000011.9:g.101024282A>G , CM000673.1:g.101024282A>G | GRCh37 |
| NC_000011.8:g.100529492A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_073144.1:n.1111+5319A>G |