Linked Data
ClinVar Variation Id:
329453
dbSNP Id:
rs5121
ExAC:
19:45451734 C / T
gnomAD v2:
19-45451734-C-T
gnomAD v3:
19-44948477-C-T
gnomAD v4:
19-44948477-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44948477C>T , CM000681.2:g.44948477C>T | GRCh38 |
| NC_000019.9:g.45451734C>T , CM000681.1:g.45451734C>T | GRCh37 |
| NC_000019.8:g.50143574C>T | NCBI36 |
| NG_008837.1:g.7492C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252490.7:c.-2C>T (APOC2) MANE Select | ENSP00000252490.5:n.-2C>T | |
| ENST00000252490.5:c.-2C>T (APOC4-APOC2) | ENSP00000252490.4:n.-2C>T | |
| ENST00000585685.5:c.*782C>T (APOC4-APOC2) | ENSP00000467185.1:n.*782C>T | |
| ENST00000585786.1:c.-2C>T (APOC2) | ENSP00000465001.1:n.-2C>T | |
| ENST00000589057.5:c.230C>T (APOC4-APOC2) | ENSP00000468139.1:p.Thr77Ile | |
| ENST00000590360.2:c.-2C>T (APOC2) | ENSP00000466775.1:n.-2C>T | |
| ENST00000591597.5:c.-2C>T (APOC2) | ENSP00000476835.1:n.-2C>T | |
| ENST00000592257.5:c.-2C>T (APOC2) | ENSP00000477261.1:n.-2C>T | |
| NM_000483.4:c.-2C>T (APOC2) | NP_000474.2:n.-2C>T | |
| NR_037932.1:n.1206C>T (APOC4-APOC2) | ||
| NM_000483.5:c.-2C>T (APOC2) MANE Select | NP_000474.2:n.-2C>T |