Linked Data
dbSNP Id:
rs1050410899
gnomAD v2:
6-31143539-G-C
gnomAD v3:
6-31175762-G-C
gnomAD v4:
6-31175762-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31175762G>C , CM000668.2:g.31175762G>C | GRCh38 |
| NC_000006.11:g.31143539G>C , CM000668.1:g.31143539G>C | GRCh37 |
| NC_000006.10:g.31251518G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000441888.7:c.-184+4857C>G (POU5F1) | ENSP00000389359.2:n.-184+4857C>G | |
| NR_026816.1:n.262-1492C>G (PSORS1C3) | ||
| NR_026816.2:n.554-1492C>G (PSORS1C3) | ||
| NR_152828.1:n.554-936C>G (PSORS1C3) | ||
| NR_152829.1:n.747C>G (PSORS1C3) | ||
| NR_152830.1:n.554-1206C>G (PSORS1C3) | ||
| NR_152831.1:n.293-1492C>G (PSORS1C3) | ||
| NR_152832.1:n.414-1492C>G (PSORS1C3) | ||
| NR_152833.1:n.554-936C>G (PSORS1C3) | ||
| NR_152834.1:n.747C>G (PSORS1C3) | ||
| NR_152835.1:n.293-1729C>G (PSORS1C3) | ||
| NR_152836.1:n.554-1206C>G (PSORS1C3) | ||
| NR_152837.1:n.554-1083C>G (PSORS1C3) | ||
| NR_152838.1:n.747C>G (PSORS1C3) | ||
| NR_152839.1:n.554-1729C>G (PSORS1C3) |