Linked Data
dbSNP Id:
rs1373478040
gnomAD v2:
6-31143526-A-G
gnomAD v3:
6-31175749-A-G
gnomAD v4:
6-31175749-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31175749A>G , CM000668.2:g.31175749A>G | GRCh38 |
| NC_000006.11:g.31143526A>G , CM000668.1:g.31143526A>G | GRCh37 |
| NC_000006.10:g.31251505A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000441888.7:c.-184+4870T>C (POU5F1) | ENSP00000389359.2:n.-184+4870T>C | |
| NR_026816.1:n.262-1479T>C (PSORS1C3) | ||
| NR_026816.2:n.554-1479T>C (PSORS1C3) | ||
| NR_152828.1:n.554-923T>C (PSORS1C3) | ||
| NR_152829.1:n.760T>C (PSORS1C3) | ||
| NR_152830.1:n.554-1193T>C (PSORS1C3) | ||
| NR_152831.1:n.293-1479T>C (PSORS1C3) | ||
| NR_152832.1:n.414-1479T>C (PSORS1C3) | ||
| NR_152833.1:n.554-923T>C (PSORS1C3) | ||
| NR_152834.1:n.760T>C (PSORS1C3) | ||
| NR_152835.1:n.293-1716T>C (PSORS1C3) | ||
| NR_152836.1:n.554-1193T>C (PSORS1C3) | ||
| NR_152837.1:n.554-1070T>C (PSORS1C3) | ||
| NR_152838.1:n.760T>C (PSORS1C3) | ||
| NR_152839.1:n.554-1716T>C (PSORS1C3) |