Linked Data
ClinVar Variation Id:
42443
dbSNP Id:
rs397515863
ERepo:
CA017709/MONDO:0007947/022
PubMed:
PMID:17253931
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48411228T>C , CM000677.2:g.48411228T>C | GRCh38 |
| NC_000015.9:g.48703425T>C , CM000677.1:g.48703425T>C | GRCh37 |
| NC_000015.8:g.46490717T>C | NCBI36 |
| NG_008805.2:g.239561A>G , LRG_778:g.239561A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*1186A>G | ENSP00000453958.2:n.*1186A>G | |
| ENST00000674301.2:c.*1891A>G | ENSP00000501333.2:n.*1891A>G | |
| ENST00000682158.1:n.1759A>G | ||
| ENST00000682170.1:n.2559A>G | ||
| ENST00000682767.1:n.1675A>G | ||
| ENST00000316623.10:c.8378A>G MANE Select | ENSP00000325527.5:p.Tyr2793Cys | |
| ENST00000674301.1:c.3544A>G | ENSP00000501333.1:n.3544A>G | |
| ENST00000316623.9:c.8378A>G | ENSP00000325527.5:p.Tyr2793Cys | |
| ENST00000559133.5:c.3747A>G | ||
| ENST00000561429.1:n.633A>G | ||
| NM_000138.4:c.8378A>G , LRG_778t1:c.8378A>G | NP_000129.3:p.Tyr2793Cys | |
| NM_000138.5:c.8378A>G MANE Select | NP_000129.3:p.Tyr2793Cys |