Linked Data
ClinVar Variation Id:
1366721
ClinVar RCV Id:
RCV001962127
dbSNP Id:
rs766114944
ExAC:
15:83330578 C / T
gnomAD v2:
15-83330578-C-T
gnomAD v3:
15-82661826-C-T
gnomAD v4:
15-82661826-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.82661826C>T , CM000677.2:g.82661826C>T | GRCh38 |
| NC_000015.9:g.83330578C>T , CM000677.1:g.83330578C>T | GRCh37 |
| NC_000015.8:g.81127633C>T | NCBI36 |
| NG_052957.1:g.53083G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261722.8:c.2976G>A (AP3B2) | ENSP00000261722.4:p.Gln992= | |
| ENST00000535359.6:c.3015G>A (AP3B2) MANE Select | ENSP00000440984.1:p.Gln1005= | |
| ENST00000535385.6:n.3902G>A (AP3B2) | ||
| ENST00000537735.2:n.3104G>A (AP3B2) | ||
| ENST00000543938.6:n.3602G>A (AP3B2) | ||
| ENST00000642989.2:c.3087G>A (AP3B2) | ENSP00000493485.1:p.Gln1029= | |
| ENST00000652847.1:c.2958G>A (AP3B2) | ENSP00000499785.1:p.Gln986= | |
| ENST00000657321.1:c.*2804G>A (AP3B2) | ENSP00000499716.1:n.*2804G>A | |
| ENST00000660624.1:c.1866G>A (AP3B2) | ENSP00000499379.1:p.Gln622= | |
| ENST00000661532.1:c.2247G>A (AP3B2) | ||
| ENST00000663651.1:n.3100G>A (AP3B2) | ||
| ENST00000666973.1:c.2958G>A (AP3B2) | ENSP00000499288.1:p.Gln986= | |
| ENST00000667758.1:c.*3613G>A (AP3B2) | ENSP00000499318.1:n.*3613G>A | |
| ENST00000668385.1:c.*2756G>A (AP3B2) | ENSP00000499544.1:n.*2756G>A | |
| ENST00000668458.1:c.2706G>A (AP3B2) | ||
| ENST00000668990.2:c.2958G>A (AP3B2) | ENSP00000499235.1:p.Gln986= | |
| ENST00000669930.1:c.2787G>A (AP3B2) | ENSP00000499671.1:p.Gln929= | |
| ENST00000679388.1:n.3542G>A (AP3B2) | ||
| ENST00000679531.1:n.3805G>A (AP3B2) | ||
| ENST00000679891.1:n.1836G>A (AP3B2) | ||
| ENST00000679950.1:n.4104G>A (AP3B2) | ||
| ENST00000680492.1:n.4438G>A (AP3B2) | ||
| ENST00000680912.1:n.2375G>A (AP3B2) | ||
| ENST00000680946.1:n.4009G>A (AP3B2) | ||
| ENST00000681044.1:n.4515G>A (AP3B2) | ||
| ENST00000681327.1:c.*2804G>A (AP3B2) | ENSP00000505423.1:n.*2804G>A | |
| ENST00000681452.1:n.3364G>A (AP3B2) | ||
| ENST00000681464.1:n.4311G>A (AP3B2) | ||
| ENST00000261722.7:c.2958G>A (AP3B2) | ENSP00000261722.3:p.Gln986= | |
| ENST00000535348.5:c.2862G>A (AP3B2) | ENSP00000438721.1:p.Gln954= | |
| ENST00000535359.5:c.3015G>A (AP3B2) | ENSP00000440984.1:p.Gln1005= | |
| ENST00000537735.1:n.626G>A (AP3B2) | ||
| ENST00000543938.5:n.2081G>A (AP3B2) | ||
| ENST00000620652.4:c.2958G>A (AP3B2) | ENSP00000479229.1:p.Gln986= | |
| NM_001278511.1:c.2862G>A (AP3B2) | NP_001265440.1:p.Gln954= | |
| NM_001278512.1:c.3015G>A (AP3B2) | NP_001265441.1:p.Gln1005= | |
| NM_004644.4:c.2958G>A (AP3B2) | NP_004635.2:p.Gln986= | |
| NR_046096.1:n.1328+11680C>T (CPEB1-AS1) | ||
| XM_011522097.1:c.2943G>A (AP3B2) | XP_011520399.1:p.Gln981= | |
| XM_011522098.1:c.2919G>A (AP3B2) | XP_011520400.1:p.Gln973= | |
| XM_011522100.1:c.1866G>A (AP3B2) | XP_011520402.1:p.Gln622= | |
| NM_001348441.1:c.147G>A (AP3B2) | NP_001335370.1:p.Gln49= | |
| XM_017022640.2:c.2886G>A (AP3B2) | XP_016878129.1:p.Gln962= | |
| XM_024450081.1:c.297G>A (AP3B2) | XP_024305849.1:p.Gln99= | |
| XM_024450082.1:c.147G>A (AP3B2) | XP_024305850.1:p.Gln49= | |
| XR_001751404.2:n.3186G>A (AP3B2) | ||
| NM_001278512.2:c.3015G>A (AP3B2) MANE Select | NP_001265441.1:p.Gln1005= | |
| NM_004644.5:c.2958G>A (AP3B2) | NP_004635.2:p.Gln986= | |
| NM_001278511.2:c.2862G>A (AP3B2) | NP_001265440.1:p.Gln954= | |
| NM_001348441.2:c.147G>A (AP3B2) | NP_001335370.1:p.Gln49= |