Linked Data
dbSNP Id:
rs759906807
ExAC:
5:133707313 C / T
gnomAD v2:
5-133707313-C-T
gnomAD v4:
5-134371622-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.134371622C>T , CM000667.2:g.134371622C>T | GRCh38 |
| NC_000005.9:g.133707313C>T , CM000667.1:g.133707313C>T | GRCh37 |
| NC_000005.8:g.133735212C>T | NCBI36 |
| NG_042179.2:g.4426G>A | |
| NG_046936.1:g.5447C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000507277.2:c.27C>T (UBE2B) | ENSP00000425137.2:p.Leu9= | |
| ENST00000265339.7:c.27C>T (UBE2B) MANE Select | ENSP00000265339.2:p.Leu9= | |
| ENST00000265339.6:c.27C>T (UBE2B) | ENSP00000265339.2:p.Leu9= | |
| ENST00000504431.1:n.17C>T (UBE2B) | ||
| ENST00000506787.5:c.24C>T (UBE2B) | ENSP00000426364.1:p.Leu8= | |
| ENST00000507277.1:c.19C>T (UBE2B) | ||
| ENST00000510021.5:c.27C>T (UBE2B) | ENSP00000425237.1:p.Leu9= | |
| ENST00000511807.1:n.121C>T (UBE2B) | ||
| NM_003337.3:c.27C>T (UBE2B) | NP_003328.1:p.Leu9= | |
| XM_024446093.1:c.3G>A (CDKL3) | XP_024301861.1:p.Met1Ile | |
| NM_003337.4:c.27C>T (UBE2B) MANE Select | NP_003328.1:p.Leu9= |