Linked Data
ClinVar Variation Id:
2664912
ClinVar RCV Id:
RCV003447886
dbSNP Id:
rs953562416
gnomAD v2:
X-48385628-C-T
gnomAD v3:
X-48527240-C-T
gnomAD v4:
X-48527240-C-T
COSMIC:
COSM5742263
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48527240C>T , CM000685.2:g.48527240C>T | GRCh38 |
| NC_000023.10:g.48385628C>T , CM000685.1:g.48385628C>T | GRCh37 |
| NC_000023.9:g.48270572C>T | NCBI36 |
| NG_007452.1:g.10465C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000495186.6:c.424C>T MANE Select | ENSP00000417052.1:p.Arg142Cys | |
| ENST00000651615.1:c.424C>T | ENSP00000498524.1:p.Arg142Cys | |
| ENST00000276096.10:n.382C>T | ||
| ENST00000414061.1:c.424C>T | ENSP00000405832.1:p.Arg142Cys | |
| ENST00000446158.5:c.424C>T | ENSP00000390031.1:p.Arg142Cys | |
| ENST00000466461.1:n.263C>T | ||
| ENST00000495186.5:c.424C>T | ENSP00000417052.1:p.Arg142Cys | |
| ENST00000498425.1:n.545C>T | ||
| NM_006579.2:c.424C>T | NP_006570.1:p.Arg142Cys | |
| NM_006579.3:c.424C>T MANE Select | NP_006570.1:p.Arg142Cys |