gnomAD v4:
Joint Max Group AF
0.00000411 (NFE)
Exomes Max Group AF
0.00000502 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.134371303T>A , CM000667.2:g.134371303T>A | GRCh38 |
| NC_000005.9:g.133706994T>A , CM000667.1:g.133706994T>A | GRCh37 |
| NC_000005.8:g.133734893T>A | NCBI36 |
| NG_042179.2:g.4745A>T | |
| NG_046936.1:g.5128T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000507277.2:c.-293T>A (UBE2B) | ENSP00000425137.2:n.-293T>A | |
| ENST00000265339.6:c.-293T>A (UBE2B) | ENSP00000265339.2:n.-293T>A | |
| NM_003337.3:c.-293T>A (UBE2B) | NP_003328.1:n.-293T>A | |
| XM_011543441.1:c.-224+95A>T (CDKL3) | XP_011541743.1:n.-224+95A>T | |
| XM_017009544.2:c.-937A>T (CDKL3) | XP_016865033.1:n.-937A>T | |
| XM_017009545.2:c.-742A>T (CDKL3) | XP_016865034.1:n.-742A>T | |
| XM_024446086.1:c.-327A>T (CDKL3) | XP_024301854.1:n.-327A>T | |
| XM_024446093.1:c.227+95A>T (CDKL3) | XP_024301861.1:n.227+95A>T | |
| XM_024446096.1:c.-708A>T (CDKL3) | XP_024301864.1:n.-708A>T | |
| XM_024446097.1:c.-729A>T (CDKL3) | XP_024301865.1:n.-729A>T | |
| XM_024446099.1:c.-439+95A>T (CDKL3) | XP_024301867.1:n.-439+95A>T | |
| XM_024446100.1:c.-529A>T (CDKL3) | XP_024301868.1:n.-529A>T | |
| XM_024446101.1:c.-319A>T (CDKL3) | XP_024301869.1:n.-319A>T | |
| XM_024446103.1:c.-529A>T (CDKL3) | XP_024301871.1:n.-529A>T |