Linked Data
ClinVar Variation Id:
374846
dbSNP Id:
rs1057519269
gnomAD v4:
15-82679729-C-T
PubMed:
PMID:27889060
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.82679729C>T , CM000677.2:g.82679729C>T | GRCh38 |
| NC_000015.9:g.83348481C>T , CM000677.1:g.83348481C>T | GRCh37 |
| NC_000015.8:g.81145536C>T | NCBI36 |
| NG_052957.1:g.35180G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261722.8:c.1182G>A (AP3B2) | ENSP00000261722.4:p.Lys394= | |
| ENST00000535359.6:c.1182G>A (AP3B2) MANE Select | ENSP00000440984.1:p.Lys394= | |
| ENST00000535385.6:n.1685G>A (AP3B2) | ||
| ENST00000537735.2:n.1328G>A (AP3B2) | ||
| ENST00000543938.6:n.1385G>A (AP3B2) | ||
| ENST00000642989.2:c.1311G>A (AP3B2) | ENSP00000493485.1:p.Lys437= | |
| ENST00000652847.1:c.1182G>A (AP3B2) | ENSP00000499785.1:p.Lys394= | |
| ENST00000657321.1:c.*806G>A (AP3B2) | ENSP00000499716.1:n.*806G>A | |
| ENST00000660624.1:c.90G>A (AP3B2) | ENSP00000499379.1:p.Lys30= | |
| ENST00000661532.1:c.409G>A (AP3B2) | ||
| ENST00000663651.1:n.1324G>A (AP3B2) | ||
| ENST00000664460.1:c.1086G>A (AP3B2) | ENSP00000499798.1:p.Lys362= | |
| ENST00000666055.1:c.1182G>A (AP3B2) | ENSP00000499608.1:p.Lys394= | |
| ENST00000666894.1:c.90G>A (AP3B2) | ENSP00000499678.1:p.Lys30= | |
| ENST00000666973.1:c.1182G>A (AP3B2) | ENSP00000499288.1:p.Lys394= | |
| ENST00000667758.1:c.*1070G>A (AP3B2) | ENSP00000499318.1:n.*1070G>A | |
| ENST00000668385.1:c.*980G>A (AP3B2) | ENSP00000499544.1:n.*980G>A | |
| ENST00000668458.1:c.803G>A (AP3B2) | ||
| ENST00000668990.2:c.1182G>A (AP3B2) | ENSP00000499235.1:p.Lys394= | |
| ENST00000669880.1:n.224+446G>A (AP3B2) | ||
| ENST00000669930.1:c.1011G>A (AP3B2) | ENSP00000499671.1:p.Lys337= | |
| ENST00000679388.1:n.1121G>A (AP3B2) | ||
| ENST00000679531.1:n.1588G>A (AP3B2) | ||
| ENST00000679950.1:n.1561G>A (AP3B2) | ||
| ENST00000680492.1:n.1588G>A (AP3B2) | ||
| ENST00000680946.1:n.1588G>A (AP3B2) | ||
| ENST00000681044.1:n.1588G>A (AP3B2) | ||
| ENST00000681327.1:c.*806G>A (AP3B2) | ENSP00000505423.1:n.*806G>A | |
| ENST00000681452.1:n.1588G>A (AP3B2) | ||
| ENST00000681464.1:n.1588G>A (AP3B2) | ||
| ENST00000261722.7:c.1182G>A (AP3B2) | ENSP00000261722.3:p.Lys394= | |
| ENST00000535348.5:c.1086G>A (AP3B2) | ENSP00000438721.1:p.Lys362= | |
| ENST00000535359.5:c.1182G>A (AP3B2) | ENSP00000440984.1:p.Lys394= | |
| ENST00000543938.5:n.305G>A (AP3B2) | ||
| ENST00000620652.4:c.1182G>A (AP3B2) | ENSP00000479229.1:p.Lys394= | |
| NM_001278511.1:c.1086G>A (AP3B2) | NP_001265440.1:p.Lys362= | |
| NM_001278512.1:c.1182G>A (AP3B2) | NP_001265441.1:p.Lys394= | |
| NM_004644.4:c.1182G>A (AP3B2) | NP_004635.2:p.Lys394= | |
| NR_046096.1:n.1329-12282C>T (CPEB1-AS1) | ||
| XM_011522097.1:c.1110+446G>A (AP3B2) | XP_011520399.1:n.1110+446G>A | |
| XM_011522098.1:c.1086G>A (AP3B2) | XP_011520400.1:p.Lys362= | |
| XM_011522099.1:c.1182G>A (AP3B2) | XP_011520401.1:p.Lys394= | |
| XM_011522100.1:c.90G>A (AP3B2) | XP_011520402.1:p.Lys30= | |
| XM_017022640.2:c.1110+446G>A (AP3B2) | XP_016878129.1:n.1110+446G>A | |
| XM_017022641.2:c.1182G>A (AP3B2) | XP_016878130.1:p.Lys394= | |
| XR_001751404.2:n.1348G>A (AP3B2) | ||
| NM_001278512.2:c.1182G>A (AP3B2) MANE Select | NP_001265441.1:p.Lys394= | |
| NM_004644.5:c.1182G>A (AP3B2) | NP_004635.2:p.Lys394= | |
| NM_001278511.2:c.1086G>A (AP3B2) | NP_001265440.1:p.Lys362= |