gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.96439482 (EAS)
Genomes Max Group AF
0.96439482 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.72614360A>G , CM000676.2:g.72614360A>G | GRCh38 |
| NC_000014.8:g.73081068A>G , CM000676.1:g.73081068A>G | GRCh37 |
| NC_000014.7:g.72150821A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556509.6:c.*4937T>C (DPF3) MANE Select | ENSP00000450518.1:n.*4937T>C | |
| XM_011537193.1:c.*3618+1319T>C (DPF3) | XP_011535495.1:n.*3618+1319T>C | |
| XM_017021670.2:c.*3618+1319T>C (DPF3) | XP_016877159.1:n.*3618+1319T>C | |
| XM_017021825.2:c.1423-15620A>G (RGS6) | XP_016877314.1:n.1423-15620A>G | |
| NM_001280542.3:c.*4937T>C (DPF3) MANE Select | NP_001267471.1:n.*4937T>C |