ClinVar RCV:
ClinVar Variation:
COSMIC:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00050328 (NFE)
Genomes Max Group AF
0.00021799 (NFE)
Exomes Max Group AF
0.00051484 (NFE)
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.30663772G>A , CM000684.2:g.30663772G>A | GRCh38 |
| NC_000022.10:g.31059759G>A , CM000684.1:g.31059759G>A | GRCh37 |
| NC_000022.9:g.29389759G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334679.4:c.232C>T (DUSP18) MANE Select | ENSP00000333917.3:p.Arg78Cys | |
| ENST00000334679.3:c.232C>T (DUSP18) | ENSP00000333917.3:p.Arg78Cys | |
| ENST00000342474.4:c.232C>T (DUSP18) | ENSP00000340795.4:p.Arg78Cys | |
| ENST00000377087.3:c.232C>T (DUSP18) | ENSP00000366291.3:p.Arg78Cys | |
| ENST00000403268.1:c.166-44C>T (DUSP18) | ENSP00000384946.1:n.166-44C>T | |
| ENST00000404885.5:c.232C>T (DUSP18) | ENSP00000385463.1:p.Arg78Cys | |
| ENST00000407308.1:c.232C>T (DUSP18) | ENSP00000386063.1:p.Arg78Cys | |
| ENST00000451479.1:c.548-1721G>A (SLC35E4) | ENSP00000413552.1:n.548-1721G>A | |
| ENST00000461301.1:n.558+3035C>T (DUSP18) | ||
| NM_001304794.1:c.232C>T (DUSP18) | NP_001291723.1:p.Arg78Cys | |
| NM_001304795.1:c.232C>T (DUSP18) | NP_001291724.1:p.Arg78Cys | |
| NM_001304796.1:c.166-44C>T (DUSP18) | NP_001291725.1:n.166-44C>T | |
| NM_152511.4:c.232C>T (DUSP18) | NP_689724.3:p.Arg78Cys | |
| XM_005261368.3:c.232C>T (DUSP18) | XP_005261425.1:p.Arg78Cys | |
| XM_006724148.2:c.232C>T (DUSP18) | XP_006724211.1:p.Arg78Cys | |
| XM_011529920.1:c.232C>T (DUSP18) | XP_011528222.1:p.Arg78Cys | |
| XM_011529921.1:c.232C>T (DUSP18) | XP_011528223.1:p.Arg78Cys | |
| NM_001318371.1:c.620-1721G>A (SLC35E4) | NP_001305300.1:n.620-1721G>A | |
| XM_005261368.5:c.232C>T (DUSP18) | XP_005261425.1:p.Arg78Cys | |
| XM_006724148.4:c.232C>T (DUSP18) | XP_006724211.1:p.Arg78Cys | |
| XM_011529920.3:c.232C>T (DUSP18) | XP_011528222.1:p.Arg78Cys | |
| XM_011529921.3:c.232C>T (DUSP18) | XP_011528223.1:p.Arg78Cys | |
| XM_017028627.2:c.232C>T (DUSP18) | XP_016884116.1:p.Arg78Cys | |
| XM_017028628.1:c.232C>T (DUSP18) | XP_016884117.1:p.Arg78Cys | |
| XR_001755171.2:n.661-44C>T (DUSP18) | ||
| NM_001304794.2:c.232C>T (DUSP18) | NP_001291723.1:p.Arg78Cys | |
| NM_001304795.2:c.232C>T (DUSP18) | NP_001291724.1:p.Arg78Cys | |
| NM_001304796.2:c.166-44C>T (DUSP18) | NP_001291725.1:n.166-44C>T | |
| NM_001318371.2:c.620-1721G>A (SLC35E4) | NP_001305300.1:n.620-1721G>A | |
| NM_152511.5:c.232C>T (DUSP18) MANE Select | NP_689724.3:p.Arg78Cys |