Linked Data
ClinVar Variation Id:
42436
dbSNP Id:
rs111856492
ERepo:
CA017451/MONDO:0007947/022
PubMed:
PMID:24793577
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48415695C>T , CM000677.2:g.48415695C>T | GRCh38 |
| NC_000015.9:g.48707892C>T , CM000677.1:g.48707892C>T | GRCh37 |
| NC_000015.8:g.46495184C>T | NCBI36 |
| NG_008805.2:g.235094G>A , LRG_778:g.235094G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*700G>A | ENSP00000453958.2:n.*700G>A | |
| ENST00000674301.2:c.*1405G>A | ENSP00000501333.2:n.*1405G>A | |
| ENST00000682158.1:n.1273G>A | ||
| ENST00000682170.1:n.2073G>A | ||
| ENST00000682767.1:n.1189G>A | ||
| ENST00000316623.10:c.7892G>A MANE Select | ENSP00000325527.5:p.Cys2631Tyr | |
| ENST00000674301.1:c.3058G>A | ENSP00000501333.1:n.3058G>A | |
| ENST00000316623.9:c.7892G>A | ENSP00000325527.5:p.Cys2631Tyr | |
| ENST00000559133.5:c.3261G>A | ||
| ENST00000561429.1:n.147G>A | ||
| NM_000138.4:c.7892G>A , LRG_778t1:c.7892G>A | NP_000129.3:p.Cys2631Tyr | |
| NM_000138.5:c.7892G>A MANE Select | NP_000129.3:p.Cys2631Tyr |