Linked Data
ClinVar Variation Id:
280123
dbSNP Id:
rs387906789
ExAC:
9:35065349 G / A
gnomAD v2:
9-35065349-G-A
gnomAD v4:
9-35065352-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.35065352G>A , CM000671.2:g.35065352G>A | GRCh38 |
| NC_000009.11:g.35065349G>A , CM000671.1:g.35065349G>A | GRCh37 |
| NC_000009.10:g.35055349G>A | NCBI36 |
| NG_007887.1:g.12391C>T , LRG_657:g.12391C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358901.11:c.475C>T MANE Select | ENSP00000351777.6:p.Arg159Cys | |
| ENST00000417448.2:c.340C>T | ENSP00000399456.2:p.Arg114Cys | |
| ENST00000448530.6:c.340C>T | ENSP00000392088.2:p.Arg114Cys | |
| ENST00000480327.2:n.747C>T | ||
| ENST00000676836.2:n.821C>T | ||
| ENST00000677257.1:c.469C>T | ENSP00000504354.1:p.Arg157Cys | |
| ENST00000678018.1:c.*446C>T | ENSP00000503811.1:n.*446C>T | |
| ENST00000678465.1:c.475C>T | ENSP00000504259.1:p.Arg159Cys | |
| ENST00000678650.1:c.340C>T | ENSP00000503426.1:p.Arg114Cys | |
| ENST00000679204.2:c.475C>T | ENSP00000503131.2:p.Arg159Cys | |
| ENST00000679599.1:n.745C>T | ||
| ENST00000679647.1:c.475C>T | ENSP00000506216.1:p.Arg159Cys | |
| ENST00000679800.1:n.796C>T | ||
| ENST00000679862.1:c.340C>T | ENSP00000504990.1:p.Arg114Cys | |
| ENST00000679902.1:c.475C>T | ENSP00000506338.1:p.Arg159Cys | |
| ENST00000680520.1:c.30C>T | ||
| ENST00000680731.1:c.197C>T | ENSP00000505497.1:p.Ala66Val | |
| ENST00000680916.1:c.475C>T | ENSP00000505769.1:p.Arg159Cys | |
| ENST00000681335.1:c.475C>T | ENSP00000505230.1:p.Arg159Cys | |
| ENST00000681562.1:c.227C>T | ||
| ENST00000681690.1:n.747C>T | ||
| ENST00000681789.1:c.30C>T | ||
| ENST00000681845.1:c.641C>T | ||
| ENST00000358901.10:c.475C>T | ENSP00000351777.6:p.Arg159Cys | |
| ENST00000417448.1:c.340C>T | ENSP00000399456.1:p.Arg114Cys | |
| ENST00000448530.5:c.340C>T | ENSP00000392088.1:p.Arg114Cys | |
| ENST00000493886.5:n.671C>T | ||
| NM_007126.3:c.475C>T , LRG_657t1:c.475C>T | NP_009057.1:p.Arg159Cys | |
| NM_001354927.1:c.340C>T | NP_001341856.1:p.Arg114Cys | |
| NM_001354928.1:c.340C>T | NP_001341857.1:p.Arg114Cys | |
| NM_007126.4:c.475C>T | NP_009057.1:p.Arg159Cys | |
| NM_007126.5:c.475C>T MANE Select | NP_009057.1:p.Arg159Cys | |
| NM_001354927.2:c.340C>T | NP_001341856.1:p.Arg114Cys | |
| NM_001354928.2:c.340C>T | NP_001341857.1:p.Arg114Cys |