Linked Data
ClinVar Variation Id:
1444913
ClinVar RCV Id:
RCV001982650
dbSNP Id:
rs370224228
ExAC:
15:83328607 C / T
gnomAD v2:
15-83328607-C-T
gnomAD v3:
15-82659855-C-T
gnomAD v4:
15-82659855-C-T
COSMIC:
COSM2012474
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.82659855C>T , CM000677.2:g.82659855C>T | GRCh38 |
| NC_000015.9:g.83328607C>T , CM000677.1:g.83328607C>T | GRCh37 |
| NC_000015.8:g.81125662C>T | NCBI36 |
| NG_052957.1:g.55054G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261722.8:c.3106G>A (AP3B2) | ENSP00000261722.4:p.Asp1036Asn | |
| ENST00000535359.6:c.3145G>A (AP3B2) MANE Select | ENSP00000440984.1:p.Asp1049Asn | |
| ENST00000535385.6:n.4032G>A (AP3B2) | ||
| ENST00000537735.2:n.3234G>A (AP3B2) | ||
| ENST00000543938.6:n.3732G>A (AP3B2) | ||
| ENST00000642989.2:c.3217G>A (AP3B2) | ENSP00000493485.1:p.Asp1073Asn | |
| ENST00000652847.1:c.3088G>A (AP3B2) | ENSP00000499785.1:p.Asp1030Asn | |
| ENST00000657321.1:c.*2934G>A (AP3B2) | ENSP00000499716.1:n.*2934G>A | |
| ENST00000660624.1:c.1996G>A (AP3B2) | ENSP00000499379.1:p.Asp666Asn | |
| ENST00000661532.1:c.2377G>A (AP3B2) | ||
| ENST00000663651.1:n.3230G>A (AP3B2) | ||
| ENST00000666973.1:c.2960-145G>A (AP3B2) | ENSP00000499288.1:n.2960-145G>A | |
| ENST00000667758.1:c.*3743G>A (AP3B2) | ENSP00000499318.1:n.*3743G>A | |
| ENST00000668385.1:c.*2886G>A (AP3B2) | ENSP00000499544.1:n.*2886G>A | |
| ENST00000668990.2:c.3088G>A (AP3B2) | ENSP00000499235.1:p.Asp1030Asn | |
| ENST00000669930.1:c.2917G>A (AP3B2) | ENSP00000499671.1:p.Asp973Asn | |
| ENST00000679388.1:n.3672G>A (AP3B2) | ||
| ENST00000679531.1:n.5776G>A (AP3B2) | ||
| ENST00000679891.1:n.1966G>A (AP3B2) | ||
| ENST00000679950.1:n.4234G>A (AP3B2) | ||
| ENST00000680492.1:n.4568G>A (AP3B2) | ||
| ENST00000680912.1:n.2505G>A (AP3B2) | ||
| ENST00000680946.1:n.4139G>A (AP3B2) | ||
| ENST00000681044.1:n.4645G>A (AP3B2) | ||
| ENST00000681327.1:c.*2934G>A (AP3B2) | ENSP00000505423.1:n.*2934G>A | |
| ENST00000681452.1:n.5335G>A (AP3B2) | ||
| ENST00000681464.1:n.4441G>A (AP3B2) | ||
| ENST00000261722.7:c.3088G>A (AP3B2) | ENSP00000261722.3:p.Asp1030Asn | |
| ENST00000535348.5:c.2992G>A (AP3B2) | ENSP00000438721.1:p.Asp998Asn | |
| ENST00000535359.5:c.3145G>A (AP3B2) | ENSP00000440984.1:p.Asp1049Asn | |
| ENST00000537735.1:n.756G>A (AP3B2) | ||
| ENST00000543938.5:n.2211G>A (AP3B2) | ||
| ENST00000620652.4:c.3088G>A (AP3B2) | ENSP00000479229.1:p.Asp1030Asn | |
| NM_001278511.1:c.2992G>A (AP3B2) | NP_001265440.1:p.Asp998Asn | |
| NM_001278512.1:c.3145G>A (AP3B2) | NP_001265441.1:p.Asp1049Asn | |
| NM_004644.4:c.3088G>A (AP3B2) | NP_004635.2:p.Asp1030Asn | |
| NR_046096.1:n.1328+9709C>T (CPEB1-AS1) | ||
| XM_011522097.1:c.3073G>A (AP3B2) | XP_011520399.1:p.Asp1025Asn | |
| XM_011522098.1:c.3049G>A (AP3B2) | XP_011520400.1:p.Asp1017Asn | |
| XM_011522100.1:c.1996G>A (AP3B2) | XP_011520402.1:p.Asp666Asn | |
| NM_001348441.1:c.277G>A (AP3B2) | NP_001335370.1:p.Asp93Asn | |
| XM_017022640.2:c.3016G>A (AP3B2) | XP_016878129.1:p.Asp1006Asn | |
| XM_024450081.1:c.427G>A (AP3B2) | XP_024305849.1:p.Asp143Asn | |
| XM_024450082.1:c.277G>A (AP3B2) | XP_024305850.1:p.Asp93Asn | |
| XR_001751404.2:n.3316G>A (AP3B2) | ||
| NM_001278512.2:c.3145G>A (AP3B2) MANE Select | NP_001265441.1:p.Asp1049Asn | |
| NM_004644.5:c.3088G>A (AP3B2) | NP_004635.2:p.Asp1030Asn | |
| NM_001278511.2:c.2992G>A (AP3B2) | NP_001265440.1:p.Asp998Asn | |
| NM_001348441.2:c.277G>A (AP3B2) | NP_001335370.1:p.Asp93Asn |