Linked Data
ClinVar Variation Id:
294812
ClinVar RCV Id:
RCV000281650
dbSNP Id:
rs886045810
gnomAD v4:
1-201316673-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.201316673C>G , CM000663.2:g.201316673C>G | GRCh38 |
| NC_000001.10:g.201285801C>G , CM000663.1:g.201285801C>G | GRCh37 |
| NC_000001.9:g.199552424C>G | NCBI36 |
| NG_023337.1:g.38222C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367324.8:c.822C>G MANE Select | ENSP00000356293.4:p.Phe274Leu | |
| ENST00000263946.7:c.822C>G | ENSP00000263946.3:p.Phe274Leu | |
| ENST00000352845.3:c.822C>G | ENSP00000295597.3:p.Phe274Leu | |
| ENST00000367324.7:c.822C>G | ENSP00000356293.3:p.Phe274Leu | |
| ENST00000475988.1:n.164C>G | ||
| ENST00000622031.4:c.819C>G | ENSP00000482213.1:p.Phe273Leu | |
| NM_000299.3:c.822C>G | NP_000290.2:p.Phe274Leu | |
| NM_001005337.2:c.822C>G | NP_001005337.1:p.Phe274Leu | |
| NM_001005337.3:c.822C>G MANE Select | NP_001005337.1:p.Phe274Leu | |
| NM_000299.4:c.822C>G | NP_000290.2:p.Phe274Leu |