Linked Data
ClinVar Variation Id:
191048
dbSNP Id:
rs757778790
ExAC:
14:76100017 G / A
gnomAD v2:
14-76100017-G-A
gnomAD v3:
14-75633674-G-A
gnomAD v4:
14-75633674-G-A
COSMIC:
COSM957996
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75633674G>A , CM000676.2:g.75633674G>A | GRCh38 |
| NC_000014.8:g.76100017G>A , CM000676.1:g.76100017G>A | GRCh37 |
| NC_000014.7:g.75169770G>A | NCBI36 |
| NG_027694.1:g.60078G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000238667.9:c.998G>A (FLVCR2) MANE Select | ENSP00000238667.4:p.Arg333His | |
| ENST00000238667.8:c.998G>A (FLVCR2) | ENSP00000238667.4:p.Arg333His | |
| ENST00000539311.5:c.383G>A (FLVCR2) | ENSP00000443439.1:p.Arg128His | |
| ENST00000553341.5:c.101G>A (FLVCR2) | ENSP00000452584.1:p.Arg34His | |
| ENST00000553587.5:c.242G>A (FLVCR2) | ENSP00000451603.1:p.Arg81His | |
| ENST00000554132.1:n.50G>A (TTLL5) | ||
| ENST00000554496.1:n.187-12727G>A (FLVCR2) | ||
| ENST00000554580.5:c.98G>A (FLVCR2) | ENSP00000451781.1:p.Arg33His | |
| ENST00000555027.1:c.143G>A (FLVCR2) | ENSP00000452453.1:p.Arg48His | |
| ENST00000555058.5:c.242G>A (FLVCR2) | ENSP00000451104.1:p.Arg81His | |
| ENST00000555385.1:n.59-29381G>A (FLVCR2) | ||
| ENST00000556241.5:n.305-1236G>A (FLVCR2) | ||
| ENST00000556265.5:n.50G>A (TTLL5) | ||
| ENST00000556409.1:n.372G>A (FLVCR2) | ||
| ENST00000556856.1:c.196+8922G>A (FLVCR2) | ENSP00000452468.1:n.196+8922G>A | |
| NM_001195283.1:c.383G>A (FLVCR2) | NP_001182212.1:p.Arg128His | |
| NM_017791.2:c.998G>A (FLVCR2) | NP_060261.2:p.Arg333His | |
| NM_017791.3:c.998G>A (FLVCR2) MANE Select | NP_060261.2:p.Arg333His | |
| NM_001195283.2:c.383G>A (FLVCR2) | NP_001182212.1:p.Arg128His |