Linked Data
ClinVar Variation Id:
1089
ClinVar RCV Id:
RCV000001147
dbSNP Id:
rs267606822
gnomAD v3:
14-75639419-C-G
gnomAD v4:
14-75639419-C-G
PubMed:
PMID:20206334
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75639419C>G , CM000676.2:g.75639419C>G | GRCh38 |
| NC_000014.8:g.76105762C>G , CM000676.1:g.76105762C>G | GRCh37 |
| NC_000014.7:g.75175515C>G | NCBI36 |
| NG_027694.1:g.65823C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000238667.9:c.1192C>G (FLVCR2) MANE Select | ENSP00000238667.4:p.Leu398Val | |
| ENST00000238667.8:c.1192C>G (FLVCR2) | ENSP00000238667.4:p.Leu398Val | |
| ENST00000539311.5:c.577C>G (FLVCR2) | ENSP00000443439.1:p.Leu193Val | |
| ENST00000553341.5:c.295C>G (FLVCR2) | ENSP00000452584.1:p.Leu99Val | |
| ENST00000553587.5:c.368+4406C>G (FLVCR2) | ENSP00000451603.1:n.368+4406C>G | |
| ENST00000554132.1:n.72+5723C>G (TTLL5) | ||
| ENST00000554496.1:n.187-6982C>G (FLVCR2) | ||
| ENST00000554580.5:c.292C>G (FLVCR2) | ENSP00000451781.1:p.Leu98Val | |
| ENST00000555027.1:c.337C>G (FLVCR2) | ENSP00000452453.1:p.Leu113Val | |
| ENST00000555385.1:n.59-23636C>G (FLVCR2) | ||
| ENST00000556241.5:n.408+4406C>G (FLVCR2) | ||
| ENST00000556265.5:n.176+4406C>G (TTLL5) | ||
| ENST00000556409.1:n.566C>G (FLVCR2) | ||
| ENST00000556856.1:c.197-6982C>G (FLVCR2) | ENSP00000452468.1:n.197-6982C>G | |
| NM_001195283.1:c.577C>G (FLVCR2) | NP_001182212.1:p.Leu193Val | |
| NM_017791.2:c.1192C>G (FLVCR2) | NP_060261.2:p.Leu398Val | |
| NM_017791.3:c.1192C>G (FLVCR2) MANE Select | NP_060261.2:p.Leu398Val | |
| NM_001195283.2:c.577C>G (FLVCR2) | NP_001182212.1:p.Leu193Val |