Linked Data
ClinVar Variation Id:
215150
dbSNP Id:
rs147085187
ExAC:
6:158567910 A / G
gnomAD v2:
6-158567910-A-G
gnomAD v3:
6-158146878-A-G
gnomAD v4:
6-158146878-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.158146878A>G , CM000668.2:g.158146878A>G | GRCh38 |
| NC_000006.11:g.158567910A>G , CM000668.1:g.158567910A>G | GRCh37 |
| NC_000006.10:g.158487898A>G | NCBI36 |
| NG_032889.1:g.26403T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000607071.6:c.*225T>C | ENSP00000475855.1:n.*225T>C | |
| ENST00000642244.1:c.301T>C | ENSP00000493554.1:p.Cys101Arg | |
| ENST00000642903.1:c.391T>C | ENSP00000493559.1:p.Cys131Arg | |
| ENST00000643093.1:n.441T>C | ||
| ENST00000644972.1:c.391T>C | ENSP00000496451.1:p.Cys131Arg | |
| ENST00000645077.1:c.*225T>C | ENSP00000496113.1:n.*225T>C | |
| ENST00000645172.1:c.*189+1987T>C | ENSP00000495367.1:n.*189+1987T>C | |
| ENST00000646190.1:n.1622T>C | ||
| ENST00000646208.1:c.127T>C | ENSP00000493723.1:p.Cys43Arg | |
| ENST00000646410.1:c.262T>C | ENSP00000494205.1:p.Cys88Arg | |
| ENST00000646562.1:c.*225T>C | ENSP00000496087.1:n.*225T>C | |
| ENST00000647468.2:c.391T>C MANE Select | ENSP00000496731.1:p.Cys131Arg | |
| ENST00000648111.1:c.*35T>C | ENSP00000497275.1:n.*35T>C | |
| ENST00000367101.5:c.391T>C | ENSP00000356068.1:p.Cys131Arg | |
| ENST00000367104.7:c.391T>C | ENSP00000356071.3:p.Cys131Arg | |
| ENST00000606965.5:c.391T>C | ENSP00000475808.1:p.Cys131Arg | |
| ENST00000607000.1:c.391T>C | ENSP00000475788.1:p.Cys131Arg | |
| ENST00000607071.5:c.*225T>C | ENSP00000475855.1:n.*225T>C | |
| ENST00000607742.5:c.*225T>C | ENSP00000475523.1:n.*225T>C | |
| NM_032861.3:c.391T>C | NP_116250.3:p.Cys131Arg | |
| NR_073096.1:n.533T>C | ||
| XM_006715586.1:c.181T>C | XP_006715649.1:p.Cys61Arg | |
| XM_011536196.1:c.370T>C | XP_011534498.1:p.Cys124Arg | |
| XM_011536197.1:c.391T>C | XP_011534499.1:p.Cys131Arg | |
| XM_011536198.1:c.181T>C | XP_011534500.1:p.Cys61Arg | |
| XR_942606.1:n.392T>C | ||
| XM_006715586.3:c.181T>C | XP_006715649.1:p.Cys61Arg | |
| XM_011536196.3:c.370T>C | XP_011534498.1:p.Cys124Arg | |
| XM_011536198.3:c.181T>C | XP_011534500.1:p.Cys61Arg | |
| XM_024446573.1:c.391T>C | XP_024302341.1:p.Cys131Arg | |
| XR_001743697.2:n.472T>C | ||
| XR_942606.2:n.523T>C | ||
| NM_032861.4:c.391T>C MANE Select | NP_116250.3:p.Cys131Arg | |
| NR_073096.2:n.515T>C |