Linked Data
dbSNP Id:
rs887465
gnomAD v2:
6-31143652-C-G
gnomAD v3:
6-31175875-C-G
gnomAD v4:
6-31175875-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31175875C>G , CM000668.2:g.31175875C>G | GRCh38 |
| NC_000006.11:g.31143652C>G , CM000668.1:g.31143652C>G | GRCh37 |
| NC_000006.10:g.31251631C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000441888.7:c.-184+4744G>C (POU5F1) | ENSP00000389359.2:n.-184+4744G>C | |
| NR_026816.1:n.262-1605G>C (PSORS1C3) | ||
| NR_026816.2:n.554-1605G>C (PSORS1C3) | ||
| NR_152828.1:n.554-1049G>C (PSORS1C3) | ||
| NR_152829.1:n.634G>C (PSORS1C3) | ||
| NR_152830.1:n.554-1319G>C (PSORS1C3) | ||
| NR_152831.1:n.293-1605G>C (PSORS1C3) | ||
| NR_152832.1:n.414-1605G>C (PSORS1C3) | ||
| NR_152833.1:n.554-1049G>C (PSORS1C3) | ||
| NR_152834.1:n.634G>C (PSORS1C3) | ||
| NR_152835.1:n.293-1842G>C (PSORS1C3) | ||
| NR_152836.1:n.554-1319G>C (PSORS1C3) | ||
| NR_152837.1:n.554-1196G>C (PSORS1C3) | ||
| NR_152838.1:n.634G>C (PSORS1C3) | ||
| NR_152839.1:n.553+1764G>C (PSORS1C3) |