Linked Data
ClinVar Variation Id:
1641798
ClinVar RCV Id:
RCV002140343
dbSNP Id:
rs771782287
ExAC:
15:83328750 C / T
gnomAD v2:
15-83328750-C-T
gnomAD v3:
15-82659998-C-T
gnomAD v4:
15-82659998-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.82659998C>T , CM000677.2:g.82659998C>T | GRCh38 |
| NC_000015.9:g.83328750C>T , CM000677.1:g.83328750C>T | GRCh37 |
| NC_000015.8:g.81125805C>T | NCBI36 |
| NG_052957.1:g.54911G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261722.8:c.2978-15G>A (AP3B2) | ENSP00000261722.4:n.2978-15G>A | |
| ENST00000535359.6:c.3017-15G>A (AP3B2) MANE Select | ENSP00000440984.1:n.3017-15G>A | |
| ENST00000535385.6:n.3904-15G>A (AP3B2) | ||
| ENST00000537735.2:n.3106-15G>A (AP3B2) | ||
| ENST00000543938.6:n.3604-15G>A (AP3B2) | ||
| ENST00000642989.2:c.3089-15G>A (AP3B2) | ENSP00000493485.1:n.3089-15G>A | |
| ENST00000652847.1:c.2960-15G>A (AP3B2) | ENSP00000499785.1:n.2960-15G>A | |
| ENST00000657321.1:c.*2806-15G>A (AP3B2) | ENSP00000499716.1:n.*2806-15G>A | |
| ENST00000660624.1:c.1868-15G>A (AP3B2) | ENSP00000499379.1:n.1868-15G>A | |
| ENST00000661532.1:c.2249-15G>A (AP3B2) | ||
| ENST00000663651.1:n.3102-15G>A (AP3B2) | ||
| ENST00000666973.1:c.2960-288G>A (AP3B2) | ENSP00000499288.1:n.2960-288G>A | |
| ENST00000667758.1:c.*3615-15G>A (AP3B2) | ENSP00000499318.1:n.*3615-15G>A | |
| ENST00000668385.1:c.*2758-15G>A (AP3B2) | ENSP00000499544.1:n.*2758-15G>A | |
| ENST00000668458.1:c.2708-15G>A (AP3B2) | ||
| ENST00000668990.2:c.2960-15G>A (AP3B2) | ENSP00000499235.1:n.2960-15G>A | |
| ENST00000669930.1:c.2789-15G>A (AP3B2) | ENSP00000499671.1:n.2789-15G>A | |
| ENST00000679388.1:n.3544-15G>A (AP3B2) | ||
| ENST00000679531.1:n.5633G>A (AP3B2) | ||
| ENST00000679891.1:n.1838-15G>A (AP3B2) | ||
| ENST00000679950.1:n.4106-15G>A (AP3B2) | ||
| ENST00000680492.1:n.4440-15G>A (AP3B2) | ||
| ENST00000680912.1:n.2377-15G>A (AP3B2) | ||
| ENST00000680946.1:n.4011-15G>A (AP3B2) | ||
| ENST00000681044.1:n.4517-15G>A (AP3B2) | ||
| ENST00000681327.1:c.*2806-15G>A (AP3B2) | ENSP00000505423.1:n.*2806-15G>A | |
| ENST00000681452.1:n.5192G>A (AP3B2) | ||
| ENST00000681464.1:n.4313-15G>A (AP3B2) | ||
| ENST00000261722.7:c.2960-15G>A (AP3B2) | ENSP00000261722.3:n.2960-15G>A | |
| ENST00000535348.5:c.2864-15G>A (AP3B2) | ENSP00000438721.1:n.2864-15G>A | |
| ENST00000535359.5:c.3017-15G>A (AP3B2) | ENSP00000440984.1:n.3017-15G>A | |
| ENST00000537735.1:n.628-15G>A (AP3B2) | ||
| ENST00000543938.5:n.2083-15G>A (AP3B2) | ||
| ENST00000620652.4:c.2960-15G>A (AP3B2) | ENSP00000479229.1:n.2960-15G>A | |
| NM_001278511.1:c.2864-15G>A (AP3B2) | NP_001265440.1:n.2864-15G>A | |
| NM_001278512.1:c.3017-15G>A (AP3B2) | NP_001265441.1:n.3017-15G>A | |
| NM_004644.4:c.2960-15G>A (AP3B2) | NP_004635.2:n.2960-15G>A | |
| NR_046096.1:n.1328+9852C>T (CPEB1-AS1) | ||
| XM_011522097.1:c.2945-15G>A (AP3B2) | XP_011520399.1:n.2945-15G>A | |
| XM_011522098.1:c.2921-15G>A (AP3B2) | XP_011520400.1:n.2921-15G>A | |
| XM_011522100.1:c.1868-15G>A (AP3B2) | XP_011520402.1:n.1868-15G>A | |
| NM_001348441.1:c.149-15G>A (AP3B2) | NP_001335370.1:n.149-15G>A | |
| XM_017022640.2:c.2888-15G>A (AP3B2) | XP_016878129.1:n.2888-15G>A | |
| XM_024450081.1:c.299-15G>A (AP3B2) | XP_024305849.1:n.299-15G>A | |
| XM_024450082.1:c.149-15G>A (AP3B2) | XP_024305850.1:n.149-15G>A | |
| XR_001751404.2:n.3188-15G>A (AP3B2) | ||
| NM_001278512.2:c.3017-15G>A (AP3B2) MANE Select | NP_001265441.1:n.3017-15G>A | |
| NM_004644.5:c.2960-15G>A (AP3B2) | NP_004635.2:n.2960-15G>A | |
| NM_001278511.2:c.2864-15G>A (AP3B2) | NP_001265440.1:n.2864-15G>A | |
| NM_001348441.2:c.149-15G>A (AP3B2) | NP_001335370.1:n.149-15G>A |