gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01428343 (AFR)
Genomes Max Group AF
0.01428343 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.60491989G>T , CM000667.2:g.60491989G>T | GRCh38 |
| NC_000005.9:g.59787816G>T , CM000667.1:g.59787816G>T | GRCh37 |
| NC_000005.8:g.59823573G>T | NCBI36 |
| NG_027957.1:g.1110C>A | |
| NG_027957.2:g.37341C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000506510.6:n.70+30062C>A (PDE4D) | ||
| NR_024617.1:n.711+3566G>T (PART1) | ||
| NR_028509.1:n.492+3566G>T (PART1) | ||
| XM_011543472.1:c.-90+30062C>A (PDE4D) | XP_011541774.1:n.-90+30062C>A | |
| NM_001364599.1:c.-90+4150C>A (PDE4D) | NP_001351528.1:n.-90+4150C>A | |
| XM_024446110.1:c.-90+30062C>A (PDE4D) | XP_024301878.1:n.-90+30062C>A | |
| XM_024446112.1:c.-90+30062C>A (PDE4D) | XP_024301880.1:n.-90+30062C>A |