Linked Data
ClinVar Variation Id:
427108
ClinVar RCV Id:
RCV000489564
dbSNP Id:
rs146407178
ExAC:
11:47603682 C / T
gnomAD v2:
11-47603682-C-T
gnomAD v3:
11-47582130-C-T
gnomAD v4:
11-47582130-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47582130C>T , CM000673.2:g.47582130C>T | GRCh38 |
| NC_000011.9:g.47603682C>T , CM000673.1:g.47603682C>T | GRCh37 |
| NC_000011.8:g.47560258C>T | NCBI36 |
| NG_011946.1:g.8121C>T | |
| NG_011946.2:g.8121C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263774.9:c.424C>T MANE Select | ENSP00000263774.4:p.Arg142Cys | |
| ENST00000531351.2:n.1484C>T | ||
| ENST00000677462.1:n.2898C>T | ||
| ENST00000678975.1:n.2681C>T | ||
| ENST00000263774.8:c.424C>T | ENSP00000263774.4:p.Arg142Cys | |
| ENST00000524568.1:n.527C>T | ||
| ENST00000525212.1:n.79C>T | ||
| ENST00000525378.5:n.362C>T | ||
| ENST00000533507.5:n.1318C>T | ||
| NM_004551.2:c.424C>T | NP_004542.1:p.Arg142Cys | |
| NM_004551.3:c.424C>T MANE Select | NP_004542.1:p.Arg142Cys |