Linked Data
dbSNP Id:
rs7257095
gnomAD v3:
19-44948390-C-A
gnomAD v4:
19-44948390-C-A
MyVariant Identifiers:
chr19:g.44948390C>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44948390C>A , CM000681.2:g.44948390C>A | GRCh38 |
| NC_000019.9:g.45451647C>A , CM000681.1:g.45451647C>A | GRCh37 |
| NC_000019.8:g.50143487C>A | NCBI36 |
| NG_008837.1:g.7405C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252490.7:c.-13-76C>A (APOC2) MANE Select | ENSP00000252490.5:n.-13-76C>A | |
| ENST00000252490.5:c.-13-76C>A (APOC4-APOC2) | ENSP00000252490.4:n.-13-76C>A | |
| ENST00000585685.5:c.*771-76C>A (APOC4-APOC2) | ENSP00000467185.1:n.*771-76C>A | |
| ENST00000585786.1:c.-89C>A (APOC2) | ENSP00000465001.1:n.-89C>A | |
| ENST00000589057.5:c.219-76C>A (APOC4-APOC2) | ENSP00000468139.1:n.219-76C>A | |
| ENST00000590360.2:c.-13-76C>A (APOC2) | ENSP00000466775.1:n.-13-76C>A | |
| ENST00000591597.5:c.-13-76C>A (APOC2) | ENSP00000476835.1:n.-13-76C>A | |
| ENST00000592257.5:c.-13-76C>A (APOC2) | ENSP00000477261.1:n.-13-76C>A | |
| NM_000483.4:c.-13-76C>A (APOC2) | NP_000474.2:n.-13-76C>A | |
| NR_037932.1:n.1195-76C>A (APOC4-APOC2) | ||
| NM_000483.5:c.-13-76C>A (APOC2) MANE Select | NP_000474.2:n.-13-76C>A |