Linked Data
ClinVar Variation Id:
225195
dbSNP Id:
rs869320659
PubMed:
PMID:20301584
ERepo:
CA358784/MONDO:0010315/129
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.71109309G>A , CM000685.2:g.71109309G>A | GRCh38 |
| NC_000023.10:g.70329159G>A , CM000685.1:g.70329159G>A | GRCh37 |
| NC_000023.9:g.70245884G>A | NCBI36 |
| NG_009088.1:g.7245C>T , LRG_150:g.7245C>T | |
| NG_021141.1:g.2480C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000482750.6:c.676C>T | ENSP00000421262.2:p.Arg226Cys | |
| ENST00000696903.1:n.727C>T | ||
| ENST00000374202.7:c.676C>T MANE Select | ENSP00000363318.3:p.Arg226Cys | |
| ENST00000642473.1:n.1040C>T | ||
| ENST00000644022.1:n.942C>T | ||
| ENST00000644708.1:n.1082C>T | ||
| ENST00000644911.1:n.1082C>T | ||
| ENST00000645266.1:c.676C>T | ENSP00000493734.1:p.Arg226Cys | |
| ENST00000645518.1:c.676C>T | ENSP00000493986.1:p.Arg226Cys | |
| ENST00000646106.1:c.676C>T | ENSP00000496437.1:p.Arg226Cys | |
| ENST00000646505.1:c.676C>T | ENSP00000496673.1:p.Arg226Cys | |
| ENST00000647492.1:c.676C>T | ENSP00000495340.1:p.Arg226Cys | |
| ENST00000276110.6:n.1269C>T | ||
| ENST00000374188.7:c.-41C>T | ENSP00000363303.3:n.-41C>T | |
| ENST00000374202.6:c.676C>T | ENSP00000363318.2:p.Arg226Cys | |
| ENST00000456850.6:c.106C>T | ENSP00000388967.2:p.Arg36Cys | |
| ENST00000464642.5:c.544C>T | ENSP00000425233.1:p.Arg182Cys | |
| ENST00000482750.5:c.89C>T | ||
| ENST00000512747.3:n.603C>T | ||
| NM_000206.2:c.676C>T , LRG_150t1:c.676C>T | NP_000197.1:p.Arg226Cys | |
| NM_000206.3:c.676C>T MANE Select | NP_000197.1:p.Arg226Cys |