Linked Data
dbSNP Id:
rs924415970
gnomAD v2:
6-31143487-G-A
gnomAD v3:
6-31175710-G-A
gnomAD v4:
6-31175710-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31175710G>A , CM000668.2:g.31175710G>A | GRCh38 |
| NC_000006.11:g.31143487G>A , CM000668.1:g.31143487G>A | GRCh37 |
| NC_000006.10:g.31251466G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000441888.7:c.-184+4909C>T (POU5F1) | ENSP00000389359.2:n.-184+4909C>T | |
| NR_026816.1:n.262-1440C>T (PSORS1C3) | ||
| NR_026816.2:n.554-1440C>T (PSORS1C3) | ||
| NR_152828.1:n.554-884C>T (PSORS1C3) | ||
| NR_152829.1:n.799C>T (PSORS1C3) | ||
| NR_152830.1:n.554-1154C>T (PSORS1C3) | ||
| NR_152831.1:n.293-1440C>T (PSORS1C3) | ||
| NR_152832.1:n.414-1440C>T (PSORS1C3) | ||
| NR_152833.1:n.554-884C>T (PSORS1C3) | ||
| NR_152834.1:n.799C>T (PSORS1C3) | ||
| NR_152835.1:n.293-1677C>T (PSORS1C3) | ||
| NR_152836.1:n.554-1154C>T (PSORS1C3) | ||
| NR_152837.1:n.554-1031C>T (PSORS1C3) | ||
| NR_152838.1:n.799C>T (PSORS1C3) | ||
| NR_152839.1:n.554-1677C>T (PSORS1C3) |