gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.15520191 (NFE)
Genomes Max Group AF
0.15520191 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.24508492T>C , CM000675.2:g.24508492T>C | GRCh38 |
| NC_000013.10:g.25082630T>C , CM000675.1:g.25082630T>C | GRCh37 |
| NC_000013.9:g.23980630T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381989.4:c.-2+4214A>G (PARP4) MANE Select | ENSP00000371419.3:n.-2+4214A>G | |
| ENST00000381989.3:c.-2+4214A>G (PARP4) | ENSP00000371419.3:n.-2+4214A>G | |
| ENST00000445572.5:n.234-73169T>C (TPTE2P6) | ||
| NM_006437.3:c.-2+4214A>G (PARP4) | NP_006428.2:n.-2+4214A>G | |
| XM_011534931.1:c.273+4214A>G (PARP4) | XP_011533233.1:n.273+4214A>G | |
| XR_941496.1:n.288+4214A>G (PARP4) | ||
| XR_941756.1:n.946+5206T>C | ||
| XR_941756.2:n.132+5206T>C | ||
| NM_006437.4:c.-2+4214A>G (PARP4) MANE Select | NP_006428.2:n.-2+4214A>G |