Linked Data
ClinVar Variation Id:
508979
dbSNP Id:
rs780420200
ExAC:
6:158536020 G / GA
gnomAD v2:
6-158536020-G-GA
gnomAD v3:
6-158114988-G-GA
gnomAD v4:
6-158114988-G-GA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.158114995dup , CM000668.2:g.158114995dup | GRCh38 |
| NC_000006.11:g.158536027dup , CM000668.1:g.158536027dup | GRCh37 |
| NC_000006.10:g.158456015dup | NCBI36 |
| NG_032889.1:g.58292dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435180.6:c.714-18dup | ENSP00000391168.2:n.714-18dup | |
| ENST00000607071.6:c.*1222-18dup | ENSP00000475855.1:n.*1222-18dup | |
| ENST00000642244.1:c.1412-18dup | ENSP00000493554.1:n.1412-18dup | |
| ENST00000642903.1:c.1502-18dup | ENSP00000493559.1:n.1502-18dup | |
| ENST00000644972.1:c.1502-18dup | ENSP00000496451.1:n.1502-18dup | |
| ENST00000645077.1:c.*1123-18dup | ENSP00000496113.1:n.*1123-18dup | |
| ENST00000645172.1:c.*1204-18dup | ENSP00000495367.1:n.*1204-18dup | |
| ENST00000646190.1:n.2833-18dup | ||
| ENST00000646208.1:c.1238-18dup | ENSP00000493723.1:n.1238-18dup | |
| ENST00000646410.1:c.1373-18dup | ENSP00000494205.1:n.1373-18dup | |
| ENST00000646562.1:c.*1336-18dup | ENSP00000496087.1:n.*1336-18dup | |
| ENST00000647468.2:c.1502-18dup MANE Select | ENSP00000496731.1:n.1502-18dup | |
| ENST00000648111.1:c.*1190-18dup | ENSP00000497275.1:n.*1190-18dup | |
| ENST00000367101.5:c.1546-18dup | ENSP00000356068.1:n.1546-18dup | |
| ENST00000367104.7:c.1502-18dup | ENSP00000356071.3:n.1502-18dup | |
| ENST00000435180.5:c.227-18dup | ENSP00000391168.1:n.227-18dup | |
| ENST00000606965.5:c.*63-18dup | ENSP00000475808.1:n.*63-18dup | |
| ENST00000607071.5:c.*1436-18dup | ENSP00000475855.1:n.*1436-18dup | |
| ENST00000607742.5:c.*2780-18dup | ENSP00000475523.1:n.*2780-18dup | |
| NM_032861.3:c.1502-18dup | NP_116250.3:n.1502-18dup | |
| NR_073096.1:n.1435-18dup | ||
| XM_006715586.1:c.1292-18dup | XP_006715649.1:n.1292-18dup | |
| XM_011536196.1:c.1481-18dup | XP_011534498.1:n.1481-18dup | |
| XM_011536197.1:c.1388-18dup | XP_011534499.1:n.1388-18dup | |
| XM_011536198.1:c.1292-18dup | XP_011534500.1:n.1292-18dup | |
| XM_006715586.3:c.1292-18dup | XP_006715649.1:n.1292-18dup | |
| XM_011536196.3:c.1481-18dup | XP_011534498.1:n.1481-18dup | |
| XM_011536198.3:c.1292-18dup | XP_011534500.1:n.1292-18dup | |
| XM_024446573.1:c.1502-18dup | XP_024302341.1:n.1502-18dup | |
| XR_001743697.2:n.1533-18dup | ||
| XR_942606.2:n.1584-18dup | ||
| NM_032861.4:c.1502-18dup MANE Select | NP_116250.3:n.1502-18dup | |
| NR_073096.2:n.1417-18dup |