Linked Data
ClinVar Variation Id:
449436
dbSNP Id:
rs1555394626
gnomAD v4:
15-48428390-C-T
COSMIC:
COSM1373255
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48428390C>T , CM000677.2:g.48428390C>T | GRCh38 |
| NC_000015.9:g.48720587C>T , CM000677.1:g.48720587C>T | GRCh37 |
| NC_000015.8:g.46507879C>T | NCBI36 |
| NG_008805.2:g.222399G>A , LRG_778:g.222399G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.6953G>A | ENSP00000453958.2:p.Cys2318Tyr | |
| ENST00000674301.2:c.*404G>A | ENSP00000501333.2:n.*404G>A | |
| ENST00000682170.1:n.562G>A | ||
| ENST00000682767.1:n.188G>A | ||
| ENST00000316623.10:c.6953G>A MANE Select | ENSP00000325527.5:p.Cys2318Tyr | |
| ENST00000674301.1:c.2057G>A | ENSP00000501333.1:n.2057G>A | |
| ENST00000316623.9:c.6953G>A | ENSP00000325527.5:p.Cys2318Tyr | |
| ENST00000559133.5:c.2260G>A | ||
| ENST00000560720.1:n.240G>A | ||
| NM_000138.4:c.6953G>A , LRG_778t1:c.6953G>A | NP_000129.3:p.Cys2318Tyr | |
| NM_000138.5:c.6953G>A MANE Select | NP_000129.3:p.Cys2318Tyr |