Linked Data
ClinVar Variation Id:
927102
ClinVar RCV Id:
RCV001190116
dbSNP Id:
rs2042857660
gnomAD v4:
15-48411105-G-A
COSMIC:
COSM2190260
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48411105G>A , CM000677.2:g.48411105G>A | GRCh38 |
| NC_000015.9:g.48703302G>A , CM000677.1:g.48703302G>A | GRCh37 |
| NC_000015.8:g.46490594G>A | NCBI36 |
| NG_008805.2:g.239684C>T , LRG_778:g.239684C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*1309C>T | ENSP00000453958.2:n.*1309C>T | |
| ENST00000674301.2:c.*2014C>T | ENSP00000501333.2:n.*2014C>T | |
| ENST00000682158.1:n.1882C>T | ||
| ENST00000682170.1:n.2682C>T | ||
| ENST00000682767.1:n.1798C>T | ||
| ENST00000316623.10:c.8501C>T MANE Select | ENSP00000325527.5:p.Thr2834Ile | |
| ENST00000674301.1:c.3667C>T | ENSP00000501333.1:n.3667C>T | |
| ENST00000316623.9:c.8501C>T | ENSP00000325527.5:p.Thr2834Ile | |
| ENST00000559133.5:c.3870C>T | ||
| NM_000138.4:c.8501C>T , LRG_778t1:c.8501C>T | NP_000129.3:p.Thr2834Ile | |
| NM_000138.5:c.8501C>T MANE Select | NP_000129.3:p.Thr2834Ile |