gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.52092461 (MID)
Genomes Max Group AF
0.49728993 (NFE)
Exomes Max Group AF
0.53118452 (MID)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.94621313C>T , CM000673.2:g.94621313C>T | GRCh38 |
| NC_000011.9:g.94354479C>T , CM000673.1:g.94354479C>T | GRCh37 |
| NC_000011.8:g.93994127C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299001.11:c.*321C>T (PIWIL4) MANE Select | ENSP00000299001.6:n.*321C>T | |
| ENST00000299001.10:c.*321C>T (PIWIL4) | ENSP00000299001.6:n.*321C>T | |
| ENST00000446230.6:c.*1636C>T (PIWIL4) | ENSP00000413838.2:n.*1636C>T | |
| NM_152431.2:c.*321C>T (PIWIL4) | NP_689644.2:n.*321C>T | |
| NR_135093.1:n.523+54323G>A (PIWIL4-AS1) | ||
| NR_135094.1:n.436+54323G>A (PIWIL4-AS1) | ||
| NR_135096.1:n.524-27748G>A (PIWIL4-AS1) | ||
| NM_152431.3:c.*321C>T (PIWIL4) MANE Select | NP_689644.2:n.*321C>T |