gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002941 (NFE)
Exomes Max Group AF
0.00002848 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.7367418G>A , CM000686.2:g.7367418G>A | GRCh38 |
| NC_000024.9:g.7235459G>A , CM000686.1:g.7235459G>A | GRCh37 |
| NC_000024.8:g.7295459G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528056.5:n.1219G>A | ||
| ENST00000533551.5:n.878G>A | ||
| NR_028062.1:n.1219G>A |