gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.49464584 (AMR)
Genomes Max Group AF
0.49464584 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.82938726G>T , CM000673.2:g.82938726G>T | GRCh38 |
| NC_000011.9:g.82649768G>T , CM000673.1:g.82649768G>T | GRCh37 |
| NC_000011.8:g.82327416G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525361.5:c.511+6877G>T (DDIAS) | ENSP00000435424.1:n.511+6877G>T | |
| ENST00000534396.5:c.-148+18339C>A (PRCP) | ENSP00000432506.1:n.-148+18339C>A |