Linked Data
ClinVar Variation Id:
1093
ClinVar RCV Id:
RCV000001151
dbSNP Id:
rs780523767
ExAC:
14:76107405 T / C
gnomAD v2:
14-76107405-T-C
gnomAD v4:
14-75641062-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75641062T>C , CM000676.2:g.75641062T>C | GRCh38 |
| NC_000014.8:g.76107405T>C , CM000676.1:g.76107405T>C | GRCh37 |
| NC_000014.7:g.75177158T>C | NCBI36 |
| NG_027694.1:g.67466T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000238667.9:c.1341+2T>C (FLVCR2) MANE Select | ENSP00000238667.4:n.1341+2T>C | |
| ENST00000238667.8:c.1341+2T>C (FLVCR2) | ENSP00000238667.4:n.1341+2T>C | |
| ENST00000539311.5:c.726+2T>C (FLVCR2) | ENSP00000443439.1:n.726+2T>C | |
| ENST00000553341.5:c.444+2T>C (FLVCR2) | ENSP00000452584.1:n.444+2T>C | |
| ENST00000553587.5:c.368+6049T>C (FLVCR2) | ENSP00000451603.1:n.368+6049T>C | |
| ENST00000554132.1:n.72+7366T>C (TTLL5) | ||
| ENST00000554496.1:n.187-5339T>C (FLVCR2) | ||
| ENST00000554580.5:c.441+2T>C (FLVCR2) | ENSP00000451781.1:n.441+2T>C | |
| ENST00000555027.1:c.486+2T>C (FLVCR2) | ENSP00000452453.1:n.486+2T>C | |
| ENST00000555385.1:n.59-21993T>C (FLVCR2) | ||
| ENST00000556241.5:n.408+6049T>C (FLVCR2) | ||
| ENST00000556265.5:n.176+6049T>C (TTLL5) | ||
| ENST00000556745.1:n.329+2T>C (FLVCR2) | ||
| ENST00000556856.1:c.197-5339T>C (FLVCR2) | ENSP00000452468.1:n.197-5339T>C | |
| NM_001195283.1:c.726+2T>C (FLVCR2) | NP_001182212.1:n.726+2T>C | |
| NM_017791.2:c.1341+2T>C (FLVCR2) | NP_060261.2:n.1341+2T>C | |
| NM_017791.3:c.1341+2T>C (FLVCR2) MANE Select | NP_060261.2:n.1341+2T>C | |
| NM_001195283.2:c.726+2T>C (FLVCR2) | NP_001182212.1:n.726+2T>C |