Linked Data
ClinVar Variation Id:
374850
ClinVar RCV Id:
RCV000415580
dbSNP Id:
rs775024756
ExAC:
15:83357975 G / A
gnomAD v2:
15-83357975-G-A
gnomAD v4:
15-82689223-G-A
PubMed:
PMID:27889060
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.82689223G>A , CM000677.2:g.82689223G>A | GRCh38 |
| NC_000015.9:g.83357975G>A , CM000677.1:g.83357975G>A | GRCh37 |
| NC_000015.8:g.81155029G>A | NCBI36 |
| NG_052957.1:g.25686C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261722.8:c.199C>T (AP3B2) | ENSP00000261722.4:p.Arg67Ter | |
| ENST00000535359.6:c.199C>T (AP3B2) MANE Select | ENSP00000440984.1:p.Arg67Ter | |
| ENST00000535385.6:n.376C>T (AP3B2) | ||
| ENST00000535513.2:c.199C>T (AP3B2) | ENSP00000499258.1:p.Arg67Ter | |
| ENST00000537735.2:n.345C>T (AP3B2) | ||
| ENST00000543938.6:n.402C>T (AP3B2) | ||
| ENST00000642989.2:c.328C>T (AP3B2) | ENSP00000493485.1:p.Arg110Ter | |
| ENST00000652847.1:c.199C>T (AP3B2) | ENSP00000499785.1:p.Arg67Ter | |
| ENST00000657321.1:c.199C>T (AP3B2) | ENSP00000499716.1:p.Arg67Ter | |
| ENST00000663651.1:n.341C>T (AP3B2) | ||
| ENST00000664460.1:c.199C>T (AP3B2) | ENSP00000499798.1:p.Arg67Ter | |
| ENST00000666055.1:c.199C>T (AP3B2) | ENSP00000499608.1:p.Arg67Ter | |
| ENST00000666973.1:c.199C>T (AP3B2) | ENSP00000499288.1:p.Arg67Ter | |
| ENST00000667758.1:c.199C>T (AP3B2) | ENSP00000499318.1:p.Arg67Ter | |
| ENST00000668385.1:c.190-111C>T (AP3B2) | ENSP00000499544.1:n.190-111C>T | |
| ENST00000668990.2:c.199C>T (AP3B2) | ENSP00000499235.1:p.Arg67Ter | |
| ENST00000669930.1:c.189+155C>T (AP3B2) | ENSP00000499671.1:n.189+155C>T | |
| ENST00000679388.1:n.138C>T (AP3B2) | ||
| ENST00000679531.1:n.605C>T (AP3B2) | ||
| ENST00000679950.1:n.408C>T (AP3B2) | ||
| ENST00000680492.1:n.605C>T (AP3B2) | ||
| ENST00000680946.1:n.605C>T (AP3B2) | ||
| ENST00000681044.1:n.605C>T (AP3B2) | ||
| ENST00000681327.1:c.199C>T (AP3B2) | ENSP00000505423.1:p.Arg67Ter | |
| ENST00000681452.1:n.605C>T (AP3B2) | ||
| ENST00000681464.1:n.605C>T (AP3B2) | ||
| ENST00000261722.7:c.199C>T (AP3B2) | ENSP00000261722.3:p.Arg67Ter | |
| ENST00000535348.5:c.199C>T (AP3B2) | ENSP00000438721.1:p.Arg67Ter | |
| ENST00000535359.5:c.199C>T (AP3B2) | ENSP00000440984.1:p.Arg67Ter | |
| ENST00000535385.5:n.376C>T (AP3B2) | ||
| ENST00000535513.1:n.366C>T (AP3B2) | ||
| ENST00000541693.5:c.67C>T (AP3B2) | ENSP00000441961.1:p.Arg23Ter | |
| ENST00000542200.2:c.199C>T (AP3B2) | ENSP00000440719.1:p.Arg67Ter | |
| ENST00000561455.5:n.166C>T (AP3B2) | ||
| ENST00000620652.4:c.199C>T (AP3B2) | ENSP00000479229.1:p.Arg67Ter | |
| NM_001278511.1:c.199C>T (AP3B2) | NP_001265440.1:p.Arg67Ter | |
| NM_001278512.1:c.199C>T (AP3B2) | NP_001265441.1:p.Arg67Ter | |
| NM_004644.4:c.199C>T (AP3B2) | NP_004635.2:p.Arg67Ter | |
| NR_046096.1:n.1329-2788G>A (CPEB1-AS1) | ||
| XM_011522097.1:c.199C>T (AP3B2) | XP_011520399.1:p.Arg67Ter | |
| XM_011522098.1:c.199C>T (AP3B2) | XP_011520400.1:p.Arg67Ter | |
| XM_011522099.1:c.199C>T (AP3B2) | XP_011520401.1:p.Arg67Ter | |
| NM_001348440.1:c.199C>T (AP3B2) | NP_001335369.1:p.Arg67Ter | |
| XM_017022640.2:c.199C>T (AP3B2) | XP_016878129.1:p.Arg67Ter | |
| XM_017022641.2:c.199C>T (AP3B2) | XP_016878130.1:p.Arg67Ter | |
| XR_001751404.2:n.365C>T (AP3B2) | ||
| NM_001278512.2:c.199C>T (AP3B2) MANE Select | NP_001265441.1:p.Arg67Ter | |
| NM_004644.5:c.199C>T (AP3B2) | NP_004635.2:p.Arg67Ter | |
| NM_001278511.2:c.199C>T (AP3B2) | NP_001265440.1:p.Arg67Ter | |
| NM_001348440.2:c.199C>T (AP3B2) | NP_001335369.1:p.Arg67Ter |