Linked Data
dbSNP Id:
rs757247241
ExAC:
19:45451788 T / C
gnomAD v2:
19-45451788-T-C
gnomAD v4:
19-44948531-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44948531T>C , CM000681.2:g.44948531T>C | GRCh38 |
| NC_000019.9:g.45451788T>C , CM000681.1:g.45451788T>C | GRCh37 |
| NC_000019.8:g.50143628T>C | NCBI36 |
| NG_008837.1:g.7546T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252490.7:c.53T>C (APOC2) MANE Select | ENSP00000252490.5:p.Phe18Ser | |
| ENST00000252490.5:c.53T>C (APOC4-APOC2) | ENSP00000252490.4:p.Phe18Ser | |
| ENST00000585685.5:c.*836T>C (APOC4-APOC2) | ENSP00000467185.1:n.*836T>C | |
| ENST00000585786.1:c.53T>C (APOC2) | ENSP00000465001.1:p.Phe18Ser | |
| ENST00000589057.5:c.284T>C (APOC4-APOC2) | ENSP00000468139.1:p.Phe95Ser | |
| ENST00000590360.2:c.53T>C (APOC2) | ENSP00000466775.1:p.Phe18Ser | |
| ENST00000591597.5:c.53T>C (APOC2) | ENSP00000476835.1:p.Phe18Ser | |
| ENST00000592257.5:c.53T>C (APOC2) | ENSP00000477261.1:p.Phe18Ser | |
| NM_000483.4:c.53T>C (APOC2) | NP_000474.2:p.Phe18Ser | |
| NR_037932.1:n.1260T>C (APOC4-APOC2) | ||
| NM_000483.5:c.53T>C (APOC2) MANE Select | NP_000474.2:p.Phe18Ser |