Linked Data
ClinVar Variation Id:
329451
ClinVar RCV Id:
RCV000369592
dbSNP Id:
rs2288911
gnomAD v2:
19-45449284-T-G
gnomAD v3:
19-44946027-T-G
gnomAD v4:
19-44946027-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44946027T>G , CM000681.2:g.44946027T>G | GRCh38 |
| NC_000019.9:g.45449284T>G , CM000681.1:g.45449284T>G | GRCh37 |
| NC_000019.8:g.50141124T>G | NCBI36 |
| NG_008837.1:g.5042T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252490.5:c.-62T>G (APOC4-APOC2) | ENSP00000252490.4:n.-62T>G | |
| ENST00000585685.5:c.*722T>G (APOC4-APOC2) | ENSP00000467185.1:n.*722T>G | |
| ENST00000589057.5:c.218+1137T>G (APOC4-APOC2) | ENSP00000468139.1:n.218+1137T>G | |
| NM_000483.4:c.-62T>G (APOC2) | NP_000474.2:n.-62T>G | |
| NR_037932.1:n.1146T>G (APOC4-APOC2) |