Linked Data
ClinVar Variation Id:
10025
ClinVar RCV Id:
RCV000010708
dbSNP Id:
rs111033622
PubMed:
PMID:8900089
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.71110615A>G , CM000685.2:g.71110615A>G | GRCh38 |
| NC_000023.10:g.70330465A>G , CM000685.1:g.70330465A>G | GRCh37 |
| NC_000023.9:g.70247190A>G | NCBI36 |
| NG_009088.1:g.5939T>C , LRG_150:g.5939T>C | |
| NG_021141.1:g.1174T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000482750.6:c.343T>C | ENSP00000421262.2:p.Cys115Arg | |
| ENST00000696903.1:n.394T>C | ||
| ENST00000374202.7:c.343T>C MANE Select | ENSP00000363318.3:p.Cys115Arg | |
| ENST00000642473.1:n.707T>C | ||
| ENST00000644022.1:n.749T>C | ||
| ENST00000644708.1:n.749T>C | ||
| ENST00000644911.1:n.749T>C | ||
| ENST00000645266.1:c.343T>C | ENSP00000493734.1:p.Cys115Arg | |
| ENST00000645518.1:c.343T>C | ENSP00000493986.1:p.Cys115Arg | |
| ENST00000646106.1:c.343T>C | ENSP00000496437.1:p.Cys115Arg | |
| ENST00000646505.1:c.343T>C | ENSP00000496673.1:p.Cys115Arg | |
| ENST00000647492.1:c.343T>C | ENSP00000495340.1:p.Cys115Arg | |
| ENST00000276110.6:n.728T>C | ||
| ENST00000374188.7:c.-374T>C | ENSP00000363303.3:n.-374T>C | |
| ENST00000374202.6:c.343T>C | ENSP00000363318.2:p.Cys115Arg | |
| ENST00000456850.6:c.24+810T>C | ENSP00000388967.2:n.24+810T>C | |
| ENST00000464642.5:c.211T>C | ENSP00000425233.1:p.Cys71Arg | |
| ENST00000473378.1:c.280T>C | ENSP00000423601.1:p.Cys94Arg | |
| ENST00000487883.1:c.307T>C | ENSP00000423966.1:p.Cys103Arg | |
| ENST00000512747.3:n.410T>C | ||
| NM_000206.2:c.343T>C , LRG_150t1:c.343T>C | NP_000197.1:p.Cys115Arg | |
| NM_000206.3:c.343T>C MANE Select | NP_000197.1:p.Cys115Arg |