Linked Data
dbSNP Id:
rs748780254
ExAC:
5:133707363 C / T
gnomAD v2:
5-133707363-C-T
gnomAD v4:
5-134371672-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.134371672C>T , CM000667.2:g.134371672C>T | GRCh38 |
| NC_000005.9:g.133707363C>T , CM000667.1:g.133707363C>T | GRCh37 |
| NC_000005.8:g.133735262C>T | NCBI36 |
| NG_042179.2:g.4376G>A | |
| NG_046936.1:g.5497C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000507277.2:c.44+33C>T (UBE2B) | ENSP00000425137.2:n.44+33C>T | |
| ENST00000265339.7:c.44+33C>T (UBE2B) MANE Select | ENSP00000265339.2:n.44+33C>T | |
| ENST00000265339.6:c.44+33C>T (UBE2B) | ENSP00000265339.2:n.44+33C>T | |
| ENST00000504431.1:n.34+33C>T (UBE2B) | ||
| ENST00000506787.5:c.41+33C>T (UBE2B) | ENSP00000426364.1:n.41+33C>T | |
| ENST00000507277.1:c.36+33C>T (UBE2B) | ||
| ENST00000510021.5:c.44+33C>T (UBE2B) | ENSP00000425237.1:n.44+33C>T | |
| ENST00000511807.1:n.138+33C>T (UBE2B) | ||
| NM_003337.3:c.44+33C>T (UBE2B) | NP_003328.1:n.44+33C>T | |
| XM_024446093.1:c.-48G>A (CDKL3) | XP_024301861.1:n.-48G>A | |
| NM_003337.4:c.44+33C>T (UBE2B) MANE Select | NP_003328.1:n.44+33C>T |