COSMIC:
COSM4998033 (not active)
Revel Score:
ENST00000275015
0.048
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.18627695 (EAS)
Genomes Max Group AF
0.16270404 (EAS)
Exomes Max Group AF
0.18856671 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.44265183A>G , CM000668.2:g.44265183A>G | GRCh38 |
| NC_000006.11:g.44232920A>G , CM000668.1:g.44232920A>G | GRCh37 |
| NC_000006.10:g.44340898A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000619360.6:c.164T>C (NFKBIE) MANE Select | ENSP00000480216.1:p.Val55Ala | |
| ENST00000275015.9:c.581T>C (NFKBIE) | ENSP00000275015.3:p.Val194Ala | |
| ENST00000477930.2:c.164T>C (NFKBIE) | ENSP00000454778.2:p.Val55Ala | |
| ENST00000616555.1:c.581T>C (NFKBIE) | ENSP00000479764.1:p.Val194Ala | |
| ENST00000619360.4:c.164T>C (NFKBIE) | ENSP00000480216.1:p.Val55Ala | |
| NM_004556.2:c.581T>C (NFKBIE) | NP_004547.2:p.Val194Ala | |
| NM_004556.3:c.164T>C (NFKBIE) MANE Select | NP_004547.3:p.Val55Ala | |
| NM_001318876.2:c.946-176707A>G (POLR1C) | NP_001305805.1:n.946-176707A>G |