Linked Data
ClinVar Variation Id:
200131
ClinVar RCV Id:
RCV000181632
dbSNP Id:
rs794728285
gnomAD v4:
15-48411194-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48411194A>C , CM000677.2:g.48411194A>C | GRCh38 |
| NC_000015.9:g.48703391A>C , CM000677.1:g.48703391A>C | GRCh37 |
| NC_000015.8:g.46490683A>C | NCBI36 |
| NG_008805.2:g.239595T>G , LRG_778:g.239595T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*1220T>G | ENSP00000453958.2:n.*1220T>G | |
| ENST00000674301.2:c.*1925T>G | ENSP00000501333.2:n.*1925T>G | |
| ENST00000682158.1:n.1793T>G | ||
| ENST00000682170.1:n.2593T>G | ||
| ENST00000682767.1:n.1709T>G | ||
| ENST00000316623.10:c.8412T>G MANE Select | ENSP00000325527.5:p.Phe2804Leu | |
| ENST00000674301.1:c.3578T>G | ENSP00000501333.1:n.3578T>G | |
| ENST00000316623.9:c.8412T>G | ENSP00000325527.5:p.Phe2804Leu | |
| ENST00000559133.5:c.3781T>G | ||
| NM_000138.4:c.8412T>G , LRG_778t1:c.8412T>G | NP_000129.3:p.Phe2804Leu | |
| NM_000138.5:c.8412T>G MANE Select | NP_000129.3:p.Phe2804Leu |