Linked Data
ClinVar Variation Id:
2998689
ClinVar RCV Id:
RCV003859336
MyVariant Identifiers:
chr15:g.83330949G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.82662197G>A , CM000677.2:g.82662197G>A | GRCh38 |
| NC_000015.9:g.83330949G>A , CM000677.1:g.83330949G>A | GRCh37 |
| NC_000015.8:g.81128004G>A | NCBI36 |
| NG_052957.1:g.52712C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261722.8:c.2850C>T (AP3B2) | ENSP00000261722.4:p.Asp950= | |
| ENST00000535359.6:c.2889C>T (AP3B2) MANE Select | ENSP00000440984.1:p.Asp963= | |
| ENST00000535385.6:n.3776C>T (AP3B2) | ||
| ENST00000537735.2:n.2978C>T (AP3B2) | ||
| ENST00000543938.6:n.3476C>T (AP3B2) | ||
| ENST00000642989.2:c.2961C>T (AP3B2) | ENSP00000493485.1:p.Asp987= | |
| ENST00000652847.1:c.2832C>T (AP3B2) | ENSP00000499785.1:p.Asp944= | |
| ENST00000657321.1:c.*2678C>T (AP3B2) | ENSP00000499716.1:n.*2678C>T | |
| ENST00000660624.1:c.1740C>T (AP3B2) | ENSP00000499379.1:p.Asp580= | |
| ENST00000661532.1:c.2121C>T (AP3B2) | ||
| ENST00000663651.1:n.2974C>T (AP3B2) | ||
| ENST00000666973.1:c.2832C>T (AP3B2) | ENSP00000499288.1:p.Asp944= | |
| ENST00000667758.1:c.*3487C>T (AP3B2) | ENSP00000499318.1:n.*3487C>T | |
| ENST00000668385.1:c.*2630C>T (AP3B2) | ENSP00000499544.1:n.*2630C>T | |
| ENST00000668458.1:c.2580C>T (AP3B2) | ||
| ENST00000668990.2:c.2832C>T (AP3B2) | ENSP00000499235.1:p.Asp944= | |
| ENST00000669930.1:c.2661C>T (AP3B2) | ENSP00000499671.1:p.Asp887= | |
| ENST00000679388.1:n.3416C>T (AP3B2) | ||
| ENST00000679531.1:n.3679C>T (AP3B2) | ||
| ENST00000679891.1:n.1710C>T (AP3B2) | ||
| ENST00000679950.1:n.3978C>T (AP3B2) | ||
| ENST00000680492.1:n.4312C>T (AP3B2) | ||
| ENST00000680912.1:n.2249C>T (AP3B2) | ||
| ENST00000680946.1:n.3883C>T (AP3B2) | ||
| ENST00000681044.1:n.4389C>T (AP3B2) | ||
| ENST00000681327.1:c.*2678C>T (AP3B2) | ENSP00000505423.1:n.*2678C>T | |
| ENST00000681452.1:n.3238C>T (AP3B2) | ||
| ENST00000681464.1:n.4185C>T (AP3B2) | ||
| ENST00000261722.7:c.2832C>T (AP3B2) | ENSP00000261722.3:p.Asp944= | |
| ENST00000535348.5:c.2736C>T (AP3B2) | ENSP00000438721.1:p.Asp912= | |
| ENST00000535359.5:c.2889C>T (AP3B2) | ENSP00000440984.1:p.Asp963= | |
| ENST00000537735.1:n.500C>T (AP3B2) | ||
| ENST00000543938.5:n.1955C>T (AP3B2) | ||
| ENST00000620652.4:c.2832C>T (AP3B2) | ENSP00000479229.1:p.Asp944= | |
| NM_001278511.1:c.2736C>T (AP3B2) | NP_001265440.1:p.Asp912= | |
| NM_001278512.1:c.2889C>T (AP3B2) | NP_001265441.1:p.Asp963= | |
| NM_004644.4:c.2832C>T (AP3B2) | NP_004635.2:p.Asp944= | |
| NR_046096.1:n.1328+12051G>A (CPEB1-AS1) | ||
| XM_011522097.1:c.2817C>T (AP3B2) | XP_011520399.1:p.Asp939= | |
| XM_011522098.1:c.2793C>T (AP3B2) | XP_011520400.1:p.Asp931= | |
| XM_011522100.1:c.1740C>T (AP3B2) | XP_011520402.1:p.Asp580= | |
| NM_001348441.1:c.21C>T (AP3B2) | NP_001335370.1:p.Asp7= | |
| XM_017022640.2:c.2760C>T (AP3B2) | XP_016878129.1:p.Asp920= | |
| XM_024450081.1:c.171C>T (AP3B2) | XP_024305849.1:p.Asp57= | |
| XM_024450082.1:c.21C>T (AP3B2) | XP_024305850.1:p.Asp7= | |
| XR_001751404.2:n.3060C>T (AP3B2) | ||
| NM_001278512.2:c.2889C>T (AP3B2) MANE Select | NP_001265441.1:p.Asp963= | |
| NM_004644.5:c.2832C>T (AP3B2) | NP_004635.2:p.Asp944= | |
| NM_001278511.2:c.2736C>T (AP3B2) | NP_001265440.1:p.Asp912= | |
| NM_001348441.2:c.21C>T (AP3B2) | NP_001335370.1:p.Asp7= |