Linked Data
ClinVar Variation Id:
922325
ClinVar RCV Id:
RCV001182356
dbSNP Id:
rs767060377
gnomAD v3:
15-48411073-G-C
gnomAD v4:
15-48411073-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48411073G>C , CM000677.2:g.48411073G>C | GRCh38 |
| NC_000015.9:g.48703270G>C , CM000677.1:g.48703270G>C | GRCh37 |
| NC_000015.8:g.46490562G>C | NCBI36 |
| NG_008805.2:g.239716C>G , LRG_778:g.239716C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*1341C>G | ENSP00000453958.2:n.*1341C>G | |
| ENST00000682158.1:n.1914C>G | ||
| ENST00000682170.1:n.2714C>G | ||
| ENST00000682767.1:n.1830C>G | ||
| ENST00000316623.10:c.8533C>G MANE Select | ENSP00000325527.5:p.Leu2845Val | |
| ENST00000316623.9:c.8533C>G | ENSP00000325527.5:p.Leu2845Val | |
| ENST00000559133.5:c.3902C>G | ||
| NM_000138.4:c.8533C>G , LRG_778t1:c.8533C>G | NP_000129.3:p.Leu2845Val | |
| NM_000138.5:c.8533C>G MANE Select | NP_000129.3:p.Leu2845Val |