Linked Data
dbSNP Id:
rs750999129
gnomAD v2:
6-31143516-C-T
gnomAD v3:
6-31175739-C-T
gnomAD v4:
6-31175739-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31175739C>T , CM000668.2:g.31175739C>T | GRCh38 |
| NC_000006.11:g.31143516C>T , CM000668.1:g.31143516C>T | GRCh37 |
| NC_000006.10:g.31251495C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000441888.7:c.-184+4880G>A (POU5F1) | ENSP00000389359.2:n.-184+4880G>A | |
| NR_026816.1:n.262-1469G>A (PSORS1C3) | ||
| NR_026816.2:n.554-1469G>A (PSORS1C3) | ||
| NR_152828.1:n.554-913G>A (PSORS1C3) | ||
| NR_152829.1:n.770G>A (PSORS1C3) | ||
| NR_152830.1:n.554-1183G>A (PSORS1C3) | ||
| NR_152831.1:n.293-1469G>A (PSORS1C3) | ||
| NR_152832.1:n.414-1469G>A (PSORS1C3) | ||
| NR_152833.1:n.554-913G>A (PSORS1C3) | ||
| NR_152834.1:n.770G>A (PSORS1C3) | ||
| NR_152835.1:n.293-1706G>A (PSORS1C3) | ||
| NR_152836.1:n.554-1183G>A (PSORS1C3) | ||
| NR_152837.1:n.554-1060G>A (PSORS1C3) | ||
| NR_152838.1:n.770G>A (PSORS1C3) | ||
| NR_152839.1:n.554-1706G>A (PSORS1C3) |