Linked Data
ClinVar Variation Id:
1602610
ClinVar RCV Id:
RCV002141497
dbSNP Id:
rs2151425280
gnomAD v4:
15-82659868-A-G
MyVariant Identifiers:
chr15:g.83328620A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.82659868A>G , CM000677.2:g.82659868A>G | GRCh38 |
| NC_000015.9:g.83328620A>G , CM000677.1:g.83328620A>G | GRCh37 |
| NC_000015.8:g.81125675A>G | NCBI36 |
| NG_052957.1:g.55041T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261722.8:c.3093T>C (AP3B2) | ENSP00000261722.4:p.Pro1031= | |
| ENST00000535359.6:c.3132T>C (AP3B2) MANE Select | ENSP00000440984.1:p.Pro1044= | |
| ENST00000535385.6:n.4019T>C (AP3B2) | ||
| ENST00000537735.2:n.3221T>C (AP3B2) | ||
| ENST00000543938.6:n.3719T>C (AP3B2) | ||
| ENST00000642989.2:c.3204T>C (AP3B2) | ENSP00000493485.1:p.Pro1068= | |
| ENST00000652847.1:c.3075T>C (AP3B2) | ENSP00000499785.1:p.Pro1025= | |
| ENST00000657321.1:c.*2921T>C (AP3B2) | ENSP00000499716.1:n.*2921T>C | |
| ENST00000660624.1:c.1983T>C (AP3B2) | ENSP00000499379.1:p.Pro661= | |
| ENST00000661532.1:c.2364T>C (AP3B2) | ||
| ENST00000663651.1:n.3217T>C (AP3B2) | ||
| ENST00000666973.1:c.2960-158T>C (AP3B2) | ENSP00000499288.1:n.2960-158T>C | |
| ENST00000667758.1:c.*3730T>C (AP3B2) | ENSP00000499318.1:n.*3730T>C | |
| ENST00000668385.1:c.*2873T>C (AP3B2) | ENSP00000499544.1:n.*2873T>C | |
| ENST00000668990.2:c.3075T>C (AP3B2) | ENSP00000499235.1:p.Pro1025= | |
| ENST00000669930.1:c.2904T>C (AP3B2) | ENSP00000499671.1:p.Pro968= | |
| ENST00000679388.1:n.3659T>C (AP3B2) | ||
| ENST00000679531.1:n.5763T>C (AP3B2) | ||
| ENST00000679891.1:n.1953T>C (AP3B2) | ||
| ENST00000679950.1:n.4221T>C (AP3B2) | ||
| ENST00000680492.1:n.4555T>C (AP3B2) | ||
| ENST00000680912.1:n.2492T>C (AP3B2) | ||
| ENST00000680946.1:n.4126T>C (AP3B2) | ||
| ENST00000681044.1:n.4632T>C (AP3B2) | ||
| ENST00000681327.1:c.*2921T>C (AP3B2) | ENSP00000505423.1:n.*2921T>C | |
| ENST00000681452.1:n.5322T>C (AP3B2) | ||
| ENST00000681464.1:n.4428T>C (AP3B2) | ||
| ENST00000261722.7:c.3075T>C (AP3B2) | ENSP00000261722.3:p.Pro1025= | |
| ENST00000535348.5:c.2979T>C (AP3B2) | ENSP00000438721.1:p.Pro993= | |
| ENST00000535359.5:c.3132T>C (AP3B2) | ENSP00000440984.1:p.Pro1044= | |
| ENST00000537735.1:n.743T>C (AP3B2) | ||
| ENST00000543938.5:n.2198T>C (AP3B2) | ||
| ENST00000620652.4:c.3075T>C (AP3B2) | ENSP00000479229.1:p.Pro1025= | |
| NM_001278511.1:c.2979T>C (AP3B2) | NP_001265440.1:p.Pro993= | |
| NM_001278512.1:c.3132T>C (AP3B2) | NP_001265441.1:p.Pro1044= | |
| NM_004644.4:c.3075T>C (AP3B2) | NP_004635.2:p.Pro1025= | |
| NR_046096.1:n.1328+9722A>G (CPEB1-AS1) | ||
| XM_011522097.1:c.3060T>C (AP3B2) | XP_011520399.1:p.Pro1020= | |
| XM_011522098.1:c.3036T>C (AP3B2) | XP_011520400.1:p.Pro1012= | |
| XM_011522100.1:c.1983T>C (AP3B2) | XP_011520402.1:p.Pro661= | |
| NM_001348441.1:c.264T>C (AP3B2) | NP_001335370.1:p.Pro88= | |
| XM_017022640.2:c.3003T>C (AP3B2) | XP_016878129.1:p.Pro1001= | |
| XM_024450081.1:c.414T>C (AP3B2) | XP_024305849.1:p.Pro138= | |
| XM_024450082.1:c.264T>C (AP3B2) | XP_024305850.1:p.Pro88= | |
| XR_001751404.2:n.3303T>C (AP3B2) | ||
| NM_001278512.2:c.3132T>C (AP3B2) MANE Select | NP_001265441.1:p.Pro1044= | |
| NM_004644.5:c.3075T>C (AP3B2) | NP_004635.2:p.Pro1025= | |
| NM_001278511.2:c.2979T>C (AP3B2) | NP_001265440.1:p.Pro993= | |
| NM_001348441.2:c.264T>C (AP3B2) | NP_001335370.1:p.Pro88= |