HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31174468C>A , CM000668.2:g.31174468C>A | GRCh38 |
NC_000006.11:g.31142245C>A , CM000668.1:g.31142245C>A | GRCh37 |
NC_000006.10:g.31250224C>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000441888.7:c.-184+6151G>T (POU5F1) | ENSP00000389359.2:n.-184+6151G>T | |
NR_026816.1:n.262-198G>T (PSORS1C3) | ||
NR_026816.2:n.554-198G>T (PSORS1C3) | ||
NR_152828.1:n.770+58G>T (PSORS1C3) | ||
NR_152829.1:n.851+58G>T (PSORS1C3) | ||
NR_152830.1:n.584+58G>T (PSORS1C3) | ||
NR_152831.1:n.293-198G>T (PSORS1C3) | ||
NR_152832.1:n.414-198G>T (PSORS1C3) | ||
NR_152833.1:n.770+58G>T (PSORS1C3) | ||
NR_152834.1:n.1037+58G>T (PSORS1C3) | ||
NR_152835.1:n.293-435G>T (PSORS1C3) | ||
NR_152836.1:n.584+58G>T (PSORS1C3) | ||
NR_152837.1:n.623+58G>T (PSORS1C3) | ||
NR_152838.1:n.821-435G>T (PSORS1C3) | ||
NR_152839.1:n.554-435G>T (PSORS1C3) |