gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.52667182 (NFE)
Genomes Max Group AF
0.52667182 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72598490G>A , CM000679.2:g.72598490G>A | GRCh38 |
| NC_000017.10:g.70594629G>A , CM000679.1:g.70594629G>A | GRCh37 |
| NC_000017.9:g.68106224G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_033876.1:n.1816C>T |