Linked Data
ClinVar Variation Id:
2583
dbSNP Id:
rs120074115
gnomAD v4:
19-44948787-T-C
PubMed:
PMID:8323539
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44948787T>C , CM000681.2:g.44948787T>C | GRCh38 |
| NC_000019.9:g.45452044T>C , CM000681.1:g.45452044T>C | GRCh37 |
| NC_000019.8:g.50143884T>C | NCBI36 |
| NG_008837.1:g.7802T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252490.7:c.142T>C (APOC2) MANE Select | ENSP00000252490.5:p.Trp48Arg | |
| ENST00000252490.5:c.142T>C (APOC4-APOC2) | ENSP00000252490.4:p.Trp48Arg | |
| ENST00000585685.5:c.*925T>C (APOC4-APOC2) | ENSP00000467185.1:n.*925T>C | |
| ENST00000585786.1:c.142T>C (APOC2) | ENSP00000465001.1:p.Trp48Arg | |
| ENST00000589057.5:c.373T>C (APOC4-APOC2) | ENSP00000468139.1:p.Trp125Arg | |
| ENST00000590360.2:c.142T>C (APOC2) | ENSP00000466775.1:p.Trp48Arg | |
| ENST00000591597.5:c.142T>C (APOC2) | ENSP00000476835.1:p.Trp48Arg | |
| ENST00000592257.5:c.80T>C (APOC2) | ENSP00000477261.1:p.Leu27Pro | |
| NM_000483.4:c.142T>C (APOC2) | NP_000474.2:p.Trp48Arg | |
| NR_037932.1:n.1349T>C (APOC4-APOC2) | ||
| NM_000483.5:c.142T>C (APOC2) MANE Select | NP_000474.2:p.Trp48Arg |