Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.44258383C>T , CM000668.2:g.44258383C>T | GRCh38 |
| NC_000006.11:g.44226120C>T , CM000668.1:g.44226120C>T | GRCh37 |
| NC_000006.10:g.44334098C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000619360.6:c.*836G>A (NFKBIE) MANE Select | ENSP00000480216.1:n.*836G>A | |
| ENST00000275015.9:c.*836G>A (NFKBIE) | ENSP00000275015.3:n.*836G>A | |
| ENST00000619360.4:c.*836G>A (NFKBIE) | ENSP00000480216.1:n.*836G>A | |
| NM_004556.2:c.*836G>A (NFKBIE) | NP_004547.2:n.*836G>A | |
| NM_004556.3:c.*836G>A (NFKBIE) MANE Select | NP_004547.3:n.*836G>A | |
| NM_001318876.2:c.946-183507C>T (POLR1C) | NP_001305805.1:n.946-183507C>T |