Linked Data
ClinVar Variation Id:
1711649
ClinVar RCV Id:
RCV002293165
dbSNP Id:
rs1245168537
gnomAD v3:
6-158114806-A-T
gnomAD v4:
6-158114806-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.158114806A>T , CM000668.2:g.158114806A>T | GRCh38 |
| NC_000006.11:g.158535838A>T , CM000668.1:g.158535838A>T | GRCh37 |
| NC_000006.10:g.158455826A>T | NCBI36 |
| NG_032889.1:g.58475T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000607071.6:c.*1387T>A | ENSP00000475855.1:n.*1387T>A | |
| ENST00000642244.1:c.1577T>A | ENSP00000493554.1:p.Val526Asp | |
| ENST00000642903.1:c.1667T>A | ENSP00000493559.1:p.Val556Asp | |
| ENST00000644972.1:c.1667T>A | ENSP00000496451.1:p.Val556Asp | |
| ENST00000645077.1:c.*1288T>A | ENSP00000496113.1:n.*1288T>A | |
| ENST00000645172.1:c.*1369T>A | ENSP00000495367.1:n.*1369T>A | |
| ENST00000646190.1:n.2998T>A | ||
| ENST00000646208.1:c.1403T>A | ENSP00000493723.1:p.Val468Asp | |
| ENST00000646410.1:c.1538T>A | ENSP00000494205.1:p.Val513Asp | |
| ENST00000646562.1:c.*1501T>A | ENSP00000496087.1:n.*1501T>A | |
| ENST00000647468.2:c.1667T>A MANE Select | ENSP00000496731.1:p.Val556Asp | |
| ENST00000648111.1:c.*1355T>A | ENSP00000497275.1:n.*1355T>A | |
| ENST00000367101.5:c.*115T>A | ENSP00000356068.1:n.*115T>A | |
| ENST00000367104.7:c.1667T>A | ENSP00000356071.3:p.Val556Asp | |
| ENST00000435180.5:c.392T>A | ENSP00000391168.1:p.Val131Asp | |
| ENST00000606965.5:c.*228T>A | ENSP00000475808.1:n.*228T>A | |
| ENST00000607071.5:c.*1601T>A | ENSP00000475855.1:n.*1601T>A | |
| ENST00000607742.5:c.*2945T>A | ENSP00000475523.1:n.*2945T>A | |
| NM_032861.3:c.1667T>A | NP_116250.3:p.Val556Asp | |
| NR_073096.1:n.1600T>A | ||
| XM_006715586.1:c.1457T>A | XP_006715649.1:p.Val486Asp | |
| XM_011536196.1:c.1646T>A | XP_011534498.1:p.Val549Asp | |
| XM_011536197.1:c.1553T>A | XP_011534499.1:p.Val518Asp | |
| XM_011536198.1:c.1457T>A | XP_011534500.1:p.Val486Asp | |
| XM_006715586.3:c.1457T>A | XP_006715649.1:p.Val486Asp | |
| XM_011536196.3:c.1646T>A | XP_011534498.1:p.Val549Asp | |
| XM_011536198.3:c.1457T>A | XP_011534500.1:p.Val486Asp | |
| XM_024446573.1:c.1667T>A | XP_024302341.1:p.Val556Asp | |
| XR_001743697.2:n.1698T>A | ||
| XR_942606.2:n.1749T>A | ||
| NM_032861.4:c.1667T>A MANE Select | NP_116250.3:p.Val556Asp | |
| NR_073096.2:n.1582T>A |