gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.5112269 (AMR)
Genomes Max Group AF
0.5112269 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.44264337A>G , CM000668.2:g.44264337A>G | GRCh38 |
| NC_000006.11:g.44232074A>G , CM000668.1:g.44232074A>G | GRCh37 |
| NC_000006.10:g.44340052A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000619360.6:c.365+645T>C (NFKBIE) MANE Select | ENSP00000480216.1:n.365+645T>C | |
| ENST00000275015.9:c.782+645T>C (NFKBIE) | ENSP00000275015.3:n.782+645T>C | |
| ENST00000477930.2:c.365+645T>C (NFKBIE) | ENSP00000454778.2:n.365+645T>C | |
| ENST00000616555.1:c.782+645T>C (NFKBIE) | ENSP00000479764.1:n.782+645T>C | |
| ENST00000619360.4:c.365+645T>C (NFKBIE) | ENSP00000480216.1:n.365+645T>C | |
| NM_004556.2:c.782+645T>C (NFKBIE) | NP_004547.2:n.782+645T>C | |
| NM_004556.3:c.365+645T>C (NFKBIE) MANE Select | NP_004547.3:n.365+645T>C | |
| NM_001318876.2:c.946-177553A>G (POLR1C) | NP_001305805.1:n.946-177553A>G |