Linked Data
dbSNP Id:
rs2233437
ExAC:
6:44228162 G / A
gnomAD v2:
6-44228162-G-A
gnomAD v3:
6-44260425-G-A
gnomAD v4:
6-44260425-G-A
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.44260425G>A , CM000668.2:g.44260425G>A | GRCh38 |
| NC_000006.11:g.44228162G>A , CM000668.1:g.44228162G>A | GRCh37 |
| NC_000006.10:g.44336140G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000619360.6:c.780+26C>T (NFKBIE) MANE Select | ENSP00000480216.1:n.780+26C>T | |
| ENST00000275015.9:c.1197+26C>T (NFKBIE) | ENSP00000275015.3:n.1197+26C>T | |
| ENST00000616555.1:c.1194+26C>T (NFKBIE) | ENSP00000479764.1:n.1194+26C>T | |
| ENST00000619360.4:c.780+26C>T (NFKBIE) | ENSP00000480216.1:n.780+26C>T | |
| NM_004556.2:c.1197+26C>T (NFKBIE) | NP_004547.2:n.1197+26C>T | |
| NM_004556.3:c.780+26C>T (NFKBIE) MANE Select | NP_004547.3:n.780+26C>T | |
| NM_001318876.2:c.946-181465G>A (POLR1C) | NP_001305805.1:n.946-181465G>A |