Linked Data
ClinVar Variation Id:
444883
ClinVar RCV Id:
RCV000513223
dbSNP Id:
rs776588426
gnomAD v4:
20-46686787-C-A
PubMed:
PMID:28805828
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46686787C>A , CM000682.2:g.46686787C>A | GRCh38 |
| NC_000020.10:g.45315426C>A , CM000682.1:g.45315426C>A | GRCh37 |
| NC_000020.9:g.44748833C>A | NCBI36 |
| NG_047182.1:g.2699G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372114.4:c.728G>T MANE Select | ENSP00000361186.3:p.Arg243Leu | |
| ENST00000372102.3:c.*367G>T | ENSP00000361174.3:n.*367G>T | |
| ENST00000372114.3:c.728G>T | ENSP00000361186.3:p.Arg243Leu | |
| NM_033550.3:c.728G>T | NP_291028.3:p.Arg243Leu | |
| NM_033550.4:c.728G>T MANE Select | NP_291028.3:p.Arg243Leu |