Linked Data
ClinVar Variation Id:
329452
ClinVar RCV Id:
RCV000394492
dbSNP Id:
rs886054484
gnomAD v3:
19-44946044-C-T
gnomAD v4:
19-44946044-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44946044C>T , CM000681.2:g.44946044C>T | GRCh38 |
| NC_000019.9:g.45449301C>T , CM000681.1:g.45449301C>T | GRCh37 |
| NC_000019.8:g.50141141C>T | NCBI36 |
| NG_008837.1:g.5059C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252490.5:c.-45C>T (APOC4-APOC2) | ENSP00000252490.4:n.-45C>T | |
| ENST00000585685.5:c.*739C>T (APOC4-APOC2) | ENSP00000467185.1:n.*739C>T | |
| ENST00000589057.5:c.218+1154C>T (APOC4-APOC2) | ENSP00000468139.1:n.218+1154C>T | |
| ENST00000592257.5:c.-45C>T (APOC2) | ENSP00000477261.1:n.-45C>T | |
| NM_000483.4:c.-45C>T (APOC2) | NP_000474.2:n.-45C>T | |
| NR_037932.1:n.1163C>T (APOC4-APOC2) |