Linked Data
ClinVar Variation Id:
222616
ClinVar RCV Id:
RCV000208125
dbSNP Id:
rs869025417
PubMed:
PMID:12161601
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48411267A>G , CM000677.2:g.48411267A>G | GRCh38 |
| NC_000015.9:g.48703464A>G , CM000677.1:g.48703464A>G | GRCh37 |
| NC_000015.8:g.46490756A>G | NCBI36 |
| NG_008805.2:g.239522T>C , LRG_778:g.239522T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*1147T>C | ENSP00000453958.2:n.*1147T>C | |
| ENST00000674301.2:c.*1852T>C | ENSP00000501333.2:n.*1852T>C | |
| ENST00000682158.1:n.1720T>C | ||
| ENST00000682170.1:n.2520T>C | ||
| ENST00000682767.1:n.1636T>C | ||
| ENST00000316623.10:c.8339T>C MANE Select | ENSP00000325527.5:p.Leu2780Pro | |
| ENST00000674301.1:c.3505T>C | ENSP00000501333.1:n.3505T>C | |
| ENST00000316623.9:c.8339T>C | ENSP00000325527.5:p.Leu2780Pro | |
| ENST00000559133.5:c.3708T>C | ||
| ENST00000561429.1:n.594T>C | ||
| NM_000138.4:c.8339T>C , LRG_778t1:c.8339T>C | NP_000129.3:p.Leu2780Pro | |
| NM_000138.5:c.8339T>C MANE Select | NP_000129.3:p.Leu2780Pro |