Linked Data
ClinVar Variation Id:
6020
ClinVar RCV Id:
RCV000006391
dbSNP Id:
rs104894270
ExAC:
11:47603988 C / T
gnomAD v2:
11-47603988-C-T
gnomAD v3:
11-47582436-C-T
gnomAD v4:
11-47582436-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47582436C>T , CM000673.2:g.47582436C>T | GRCh38 |
| NC_000011.9:g.47603988C>T , CM000673.1:g.47603988C>T | GRCh37 |
| NC_000011.8:g.47560564C>T | NCBI36 |
| NG_011946.1:g.8427C>T | |
| NG_011946.2:g.8427C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263774.9:c.595C>T MANE Select | ENSP00000263774.4:p.Arg199Trp | |
| ENST00000531351.2:n.1790C>T | ||
| ENST00000677462.1:n.3069C>T | ||
| ENST00000678975.1:n.2852C>T | ||
| ENST00000263774.8:c.595C>T | ENSP00000263774.4:p.Arg199Trp | |
| ENST00000524568.1:n.698C>T | ||
| ENST00000525212.1:n.250C>T | ||
| ENST00000525378.5:n.533C>T | ||
| ENST00000527178.1:n.195C>T | ||
| ENST00000533507.5:n.1489C>T | ||
| NM_004551.2:c.595C>T | NP_004542.1:p.Arg199Trp | |
| NM_004551.3:c.595C>T MANE Select | NP_004542.1:p.Arg199Trp |