Linked Data
dbSNP Id:
rs1391410785
gnomAD v2:
19-45452242-T-G
gnomAD v3:
19-44948985-T-G
gnomAD v4:
19-44948985-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44948985T>G , CM000681.2:g.44948985T>G | GRCh38 |
| NC_000019.9:g.45452242T>G , CM000681.1:g.45452242T>G | GRCh37 |
| NC_000019.8:g.50144082T>G | NCBI36 |
| NG_008837.1:g.8000T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252490.7:c.215+125T>G (APOC2) MANE Select | ENSP00000252490.5:n.215+125T>G | |
| ENST00000252490.5:c.215+125T>G (APOC4-APOC2) | ENSP00000252490.4:n.215+125T>G | |
| ENST00000585685.5:c.*998+125T>G (APOC4-APOC2) | ENSP00000467185.1:n.*998+125T>G | |
| ENST00000585786.1:c.*121T>G (APOC2) | ENSP00000465001.1:n.*121T>G | |
| ENST00000589057.5:c.446+125T>G (APOC4-APOC2) | ENSP00000468139.1:n.446+125T>G | |
| ENST00000590360.2:c.215+125T>G (APOC2) | ENSP00000466775.1:n.215+125T>G | |
| ENST00000591597.5:c.173+167T>G (APOC2) | ENSP00000476835.1:n.173+167T>G | |
| ENST00000592257.5:c.*9+125T>G (APOC2) | ENSP00000477261.1:n.*9+125T>G | |
| NM_000483.4:c.215+125T>G (APOC2) | NP_000474.2:n.215+125T>G | |
| NR_037932.1:n.1422+125T>G (APOC4-APOC2) | ||
| NM_000483.5:c.215+125T>G (APOC2) MANE Select | NP_000474.2:n.215+125T>G |