Linked Data
ClinVar Variation Id:
1672473
dbSNP Id:
rs375416338
ExAC:
15:83328588 G / T
gnomAD v2:
15-83328588-G-T
gnomAD v3:
15-82659836-G-T
gnomAD v4:
15-82659836-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.82659836G>T , CM000677.2:g.82659836G>T | GRCh38 |
| NC_000015.9:g.83328588G>T , CM000677.1:g.83328588G>T | GRCh37 |
| NC_000015.8:g.81125643G>T | NCBI36 |
| NG_052957.1:g.55073C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261722.8:c.3116+9C>A (AP3B2) | ENSP00000261722.4:n.3116+9C>A | |
| ENST00000535359.6:c.3155+9C>A (AP3B2) MANE Select | ENSP00000440984.1:n.3155+9C>A | |
| ENST00000535385.6:n.4042+9C>A (AP3B2) | ||
| ENST00000537735.2:n.3244+9C>A (AP3B2) | ||
| ENST00000543938.6:n.3742+9C>A (AP3B2) | ||
| ENST00000642989.2:c.3227+9C>A (AP3B2) | ENSP00000493485.1:n.3227+9C>A | |
| ENST00000652847.1:c.3098+9C>A (AP3B2) | ENSP00000499785.1:n.3098+9C>A | |
| ENST00000657321.1:c.*2944+9C>A (AP3B2) | ENSP00000499716.1:n.*2944+9C>A | |
| ENST00000660624.1:c.2006+9C>A (AP3B2) | ENSP00000499379.1:n.2006+9C>A | |
| ENST00000661532.1:c.2387+9C>A (AP3B2) | ||
| ENST00000663651.1:n.3240+9C>A (AP3B2) | ||
| ENST00000666973.1:c.2960-126C>A (AP3B2) | ENSP00000499288.1:n.2960-126C>A | |
| ENST00000667758.1:c.*3753+9C>A (AP3B2) | ENSP00000499318.1:n.*3753+9C>A | |
| ENST00000668385.1:c.*2896+9C>A (AP3B2) | ENSP00000499544.1:n.*2896+9C>A | |
| ENST00000668990.2:c.3098+9C>A (AP3B2) | ENSP00000499235.1:n.3098+9C>A | |
| ENST00000669930.1:c.2927+9C>A (AP3B2) | ENSP00000499671.1:n.2927+9C>A | |
| ENST00000679388.1:n.3682+9C>A (AP3B2) | ||
| ENST00000679531.1:n.5786+9C>A (AP3B2) | ||
| ENST00000679891.1:n.1976+9C>A (AP3B2) | ||
| ENST00000679950.1:n.4244+9C>A (AP3B2) | ||
| ENST00000680492.1:n.4578+9C>A (AP3B2) | ||
| ENST00000680912.1:n.2515+9C>A (AP3B2) | ||
| ENST00000680946.1:n.4149+9C>A (AP3B2) | ||
| ENST00000681044.1:n.4655+9C>A (AP3B2) | ||
| ENST00000681327.1:c.*2944+9C>A (AP3B2) | ENSP00000505423.1:n.*2944+9C>A | |
| ENST00000681452.1:n.5345+9C>A (AP3B2) | ||
| ENST00000681464.1:n.4451+9C>A (AP3B2) | ||
| ENST00000261722.7:c.3098+9C>A (AP3B2) | ENSP00000261722.3:n.3098+9C>A | |
| ENST00000535348.5:c.3002+9C>A (AP3B2) | ENSP00000438721.1:n.3002+9C>A | |
| ENST00000535359.5:c.3155+9C>A (AP3B2) | ENSP00000440984.1:n.3155+9C>A | |
| ENST00000537735.1:n.766+9C>A (AP3B2) | ||
| ENST00000543938.5:n.2221+9C>A (AP3B2) | ||
| ENST00000620652.4:c.3098+9C>A (AP3B2) | ENSP00000479229.1:n.3098+9C>A | |
| NM_001278511.1:c.3002+9C>A (AP3B2) | NP_001265440.1:n.3002+9C>A | |
| NM_001278512.1:c.3155+9C>A (AP3B2) | NP_001265441.1:n.3155+9C>A | |
| NM_004644.4:c.3098+9C>A (AP3B2) | NP_004635.2:n.3098+9C>A | |
| NR_046096.1:n.1328+9690G>T (CPEB1-AS1) | ||
| XM_011522097.1:c.3083+9C>A (AP3B2) | XP_011520399.1:n.3083+9C>A | |
| XM_011522098.1:c.3059+9C>A (AP3B2) | XP_011520400.1:n.3059+9C>A | |
| XM_011522100.1:c.2006+9C>A (AP3B2) | XP_011520402.1:n.2006+9C>A | |
| NM_001348441.1:c.287+9C>A (AP3B2) | NP_001335370.1:n.287+9C>A | |
| XM_017022640.2:c.3026+9C>A (AP3B2) | XP_016878129.1:n.3026+9C>A | |
| XM_024450081.1:c.437+9C>A (AP3B2) | XP_024305849.1:n.437+9C>A | |
| XM_024450082.1:c.287+9C>A (AP3B2) | XP_024305850.1:n.287+9C>A | |
| XR_001751404.2:n.3326+9C>A (AP3B2) | ||
| NM_001278512.2:c.3155+9C>A (AP3B2) MANE Select | NP_001265441.1:n.3155+9C>A | |
| NM_004644.5:c.3098+9C>A (AP3B2) | NP_004635.2:n.3098+9C>A | |
| NM_001278511.2:c.3002+9C>A (AP3B2) | NP_001265440.1:n.3002+9C>A | |
| NM_001348441.2:c.287+9C>A (AP3B2) | NP_001335370.1:n.287+9C>A |