gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.46984051 (EAS)
Genomes Max Group AF
0.46984051 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31175734G>A , CM000668.2:g.31175734G>A | GRCh38 |
| NC_000006.11:g.31143511G>A , CM000668.1:g.31143511G>A | GRCh37 |
| NC_000006.10:g.31251490G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000441888.7:c.-184+4885C>T (POU5F1) | ENSP00000389359.2:n.-184+4885C>T | |
| NR_026816.1:n.262-1464C>T (PSORS1C3) | ||
| NR_026816.2:n.554-1464C>T (PSORS1C3) | ||
| NR_152828.1:n.554-908C>T (PSORS1C3) | ||
| NR_152829.1:n.775C>T (PSORS1C3) | ||
| NR_152830.1:n.554-1178C>T (PSORS1C3) | ||
| NR_152831.1:n.293-1464C>T (PSORS1C3) | ||
| NR_152832.1:n.414-1464C>T (PSORS1C3) | ||
| NR_152833.1:n.554-908C>T (PSORS1C3) | ||
| NR_152834.1:n.775C>T (PSORS1C3) | ||
| NR_152835.1:n.293-1701C>T (PSORS1C3) | ||
| NR_152836.1:n.554-1178C>T (PSORS1C3) | ||
| NR_152837.1:n.554-1055C>T (PSORS1C3) | ||
| NR_152838.1:n.775C>T (PSORS1C3) | ||
| NR_152839.1:n.554-1701C>T (PSORS1C3) |