COSMIC:
COSM4003696 (not active)
COSM4003697 (not active)
Revel Score:
ENST00000527246 (MANE Select)
0.140
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.35458673 (EAS)
Genomes Max Group AF
0.34593317 (EAS)
Exomes Max Group AF
0.3542531 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.138218178A>G , CM000668.2:g.138218178A>G | GRCh38 |
| NC_000006.11:g.138539315A>G , CM000668.1:g.138539315A>G | GRCh37 |
| NC_000006.10:g.138581008A>G | NCBI36 |
| NG_029816.1:g.5313T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251691.5:c.351+8137A>G (ARFGEF3) MANE Select | ENSP00000251691.4:n.351+8137A>G | |
| ENST00000251691.4:c.351+8137A>G (ARFGEF3) | ENSP00000251691.4:n.351+8137A>G | |
| ENST00000527246.3:c.218T>C (PBOV1) MANE Select | ENSP00000432353.1:p.Ile73Thr | |
| NM_020340.4:c.351+8137A>G (ARFGEF3) | NP_065073.3:n.351+8137A>G | |
| NM_021635.2:c.218T>C (PBOV1) | NP_067648.1:p.Ile73Thr | |
| XR_001743524.1:n.748+8137A>G (ARFGEF3) | ||
| NM_020340.5:c.351+8137A>G (ARFGEF3) MANE Select | NP_065073.3:n.351+8137A>G | |
| NM_021635.3:c.218T>C (PBOV1) MANE Select | NP_067648.1:p.Ile73Thr |