Linked Data
dbSNP Id:
rs115380692
gnomAD v2:
6-31143529-C-T
gnomAD v3:
6-31175752-C-T
gnomAD v4:
6-31175752-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31175752C>T , CM000668.2:g.31175752C>T | GRCh38 |
| NC_000006.11:g.31143529C>T , CM000668.1:g.31143529C>T | GRCh37 |
| NC_000006.10:g.31251508C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000441888.7:c.-184+4867G>A (POU5F1) | ENSP00000389359.2:n.-184+4867G>A | |
| NR_026816.1:n.262-1482G>A (PSORS1C3) | ||
| NR_026816.2:n.554-1482G>A (PSORS1C3) | ||
| NR_152828.1:n.554-926G>A (PSORS1C3) | ||
| NR_152829.1:n.757G>A (PSORS1C3) | ||
| NR_152830.1:n.554-1196G>A (PSORS1C3) | ||
| NR_152831.1:n.293-1482G>A (PSORS1C3) | ||
| NR_152832.1:n.414-1482G>A (PSORS1C3) | ||
| NR_152833.1:n.554-926G>A (PSORS1C3) | ||
| NR_152834.1:n.757G>A (PSORS1C3) | ||
| NR_152835.1:n.293-1719G>A (PSORS1C3) | ||
| NR_152836.1:n.554-1196G>A (PSORS1C3) | ||
| NR_152837.1:n.554-1073G>A (PSORS1C3) | ||
| NR_152838.1:n.757G>A (PSORS1C3) | ||
| NR_152839.1:n.554-1719G>A (PSORS1C3) |