gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.17811218 (EAS)
Genomes Max Group AF
0.17811218 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.47740371G>T , CM000669.2:g.47740371G>T | GRCh38 |
| NC_000007.13:g.47779969G>T , CM000669.1:g.47779969G>T | GRCh37 |
| NC_000007.12:g.47746494G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648482.1:c.1702C>A (PKD1L1) | ||
| ENST00000436444.5:c.*1171-44596C>A (HUS1) | ENSP00000403844.1:n.*1171-44596C>A |