gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001973 (NFE)
Genomes Max Group AF
0.00001973 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.58833371C>T , CM000682.2:g.58833371C>T | GRCh38 |
| NC_000020.10:g.57408426C>T , CM000682.1:g.57408426C>T | GRCh37 |
| NC_000020.9:g.56841821C>T | NCBI36 |
| NG_021433.1:g.22533G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_002785.2:n.819+8566G>A |