Linked Data
dbSNP Id:
rs11638815
gnomAD v2:
15-83352282-A-C
gnomAD v3:
15-82683530-A-C
gnomAD v4:
15-82683530-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.82683530A>C , CM000677.2:g.82683530A>C | GRCh38 |
| NC_000015.9:g.83352282A>C , CM000677.1:g.83352282A>C | GRCh37 |
| NC_000015.8:g.81149336A>C | NCBI36 |
| NG_052957.1:g.31379T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261722.8:c.361-1950T>G (AP3B2) | ENSP00000261722.4:n.361-1950T>G | |
| ENST00000535359.6:c.361-1950T>G (AP3B2) MANE Select | ENSP00000440984.1:n.361-1950T>G | |
| ENST00000535385.6:n.864-1950T>G (AP3B2) | ||
| ENST00000537735.2:n.507-1950T>G (AP3B2) | ||
| ENST00000543938.6:n.564-1950T>G (AP3B2) | ||
| ENST00000642989.2:c.490-1950T>G (AP3B2) | ENSP00000493485.1:n.490-1950T>G | |
| ENST00000652847.1:c.361-1950T>G (AP3B2) | ENSP00000499785.1:n.361-1950T>G | |
| ENST00000657321.1:c.438-1950T>G (AP3B2) | ENSP00000499716.1:n.438-1950T>G | |
| ENST00000663651.1:n.503-1950T>G (AP3B2) | ||
| ENST00000664460.1:c.265-1950T>G (AP3B2) | ENSP00000499798.1:n.265-1950T>G | |
| ENST00000666055.1:c.361-1950T>G (AP3B2) | ENSP00000499608.1:n.361-1950T>G | |
| ENST00000666973.1:c.361-1950T>G (AP3B2) | ENSP00000499288.1:n.361-1950T>G | |
| ENST00000667758.1:c.*249-1950T>G (AP3B2) | ENSP00000499318.1:n.*249-1950T>G | |
| ENST00000668385.1:c.*159-1950T>G (AP3B2) | ENSP00000499544.1:n.*159-1950T>G | |
| ENST00000668990.2:c.361-1950T>G (AP3B2) | ENSP00000499235.1:n.361-1950T>G | |
| ENST00000669930.1:c.190-1950T>G (AP3B2) | ENSP00000499671.1:n.190-1950T>G | |
| ENST00000679388.1:n.300-1950T>G (AP3B2) | ||
| ENST00000679531.1:n.767-1950T>G (AP3B2) | ||
| ENST00000679950.1:n.740-1950T>G (AP3B2) | ||
| ENST00000680492.1:n.767-1950T>G (AP3B2) | ||
| ENST00000680946.1:n.767-1950T>G (AP3B2) | ||
| ENST00000681044.1:n.767-1950T>G (AP3B2) | ||
| ENST00000681327.1:c.438-1950T>G (AP3B2) | ENSP00000505423.1:n.438-1950T>G | |
| ENST00000681452.1:n.767-1950T>G (AP3B2) | ||
| ENST00000681464.1:n.767-1950T>G (AP3B2) | ||
| ENST00000261722.7:c.361-1950T>G (AP3B2) | ENSP00000261722.3:n.361-1950T>G | |
| ENST00000535348.5:c.265-1950T>G (AP3B2) | ENSP00000438721.1:n.265-1950T>G | |
| ENST00000535359.5:c.361-1950T>G (AP3B2) | ENSP00000440984.1:n.361-1950T>G | |
| ENST00000535385.5:n.864-1950T>G (AP3B2) | ||
| ENST00000541693.5:c.229-1950T>G (AP3B2) | ENSP00000441961.1:n.229-1950T>G | |
| ENST00000620652.4:c.361-1950T>G (AP3B2) | ENSP00000479229.1:n.361-1950T>G | |
| NM_001278511.1:c.265-1950T>G (AP3B2) | NP_001265440.1:n.265-1950T>G | |
| NM_001278512.1:c.361-1950T>G (AP3B2) | NP_001265441.1:n.361-1950T>G | |
| NM_004644.4:c.361-1950T>G (AP3B2) | NP_004635.2:n.361-1950T>G | |
| NR_046096.1:n.1329-8481A>C (CPEB1-AS1) | ||
| XM_011522097.1:c.361-1950T>G (AP3B2) | XP_011520399.1:n.361-1950T>G | |
| XM_011522098.1:c.265-1950T>G (AP3B2) | XP_011520400.1:n.265-1950T>G | |
| XM_011522099.1:c.361-1950T>G (AP3B2) | XP_011520401.1:n.361-1950T>G | |
| XM_017022640.2:c.361-1950T>G (AP3B2) | XP_016878129.1:n.361-1950T>G | |
| XM_017022641.2:c.361-1950T>G (AP3B2) | XP_016878130.1:n.361-1950T>G | |
| XR_001751404.2:n.527-1950T>G (AP3B2) | ||
| NM_001278512.2:c.361-1950T>G (AP3B2) MANE Select | NP_001265441.1:n.361-1950T>G | |
| NM_004644.5:c.361-1950T>G (AP3B2) | NP_004635.2:n.361-1950T>G | |
| NM_001278511.2:c.265-1950T>G (AP3B2) | NP_001265440.1:n.265-1950T>G |