Linked Data
dbSNP Id:
rs766807843
ExAC:
1:63069675 A / G
gnomAD v2:
1-63069675-A-G
gnomAD v4:
1-62604004-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.62604004A>G , CM000663.2:g.62604004A>G | GRCh38 |
| NC_000001.10:g.63069675A>G , CM000663.1:g.63069675A>G | GRCh37 |
| NC_000001.9:g.62842263A>G | NCBI36 |
| NG_028169.1:g.11489A>G | |
| NG_033073.1:g.89365T>C | |
| NG_033073.2:g.89365T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371129.4:c.967A>G (ANGPTL3) MANE Select | ENSP00000360170.3:p.Ile323Val | |
| ENST00000614472.5:c.1388+14702T>C (DOCK7) | ENSP00000483062.2:n.1388+14702T>C | |
| ENST00000635253.2:c.1682+14702T>C (DOCK7) MANE Select | ENSP00000489124.1:n.1682+14702T>C | |
| ENST00000637208.1:c.1682+14702T>C (DOCK7) | ENSP00000490079.1:n.1682+14702T>C | |
| ENST00000637227.1:n.82-6463T>C (DOCK7) | ||
| ENST00000251157.10:c.1682+14702T>C (DOCK7) | ENSP00000251157.6:n.1682+14702T>C | |
| ENST00000340370.10:c.1682+14702T>C (DOCK7) | ENSP00000340742.5:n.1682+14702T>C | |
| ENST00000371129.3:c.967A>G (ANGPTL3) | ENSP00000360170.3:p.Ile323Val | |
| ENST00000404627.3:c.1682+14702T>C (DOCK7) | ENSP00000384446.2:n.1682+14702T>C | |
| ENST00000454575.6:c.1682+14702T>C (DOCK7) | ENSP00000413583.2:n.1682+14702T>C | |
| ENST00000493994.1:n.97A>G (ANGPTL3) | ||
| ENST00000614472.4:c.1358+14702T>C (DOCK7) | ENSP00000483062.1:n.1358+14702T>C | |
| ENST00000634223.1:c.12+14702T>C (DOCK7) | ||
| ENST00000634264.1:c.1682+14702T>C (DOCK7) | ENSP00000489284.1:n.1682+14702T>C | |
| ENST00000635123.1:c.1682+14702T>C (DOCK7) | ENSP00000489499.1:n.1682+14702T>C | |
| ENST00000635253.1:c.1682+14702T>C (DOCK7) | ENSP00000489124.1:n.1682+14702T>C | |
| NM_001271999.1:c.1682+14702T>C (DOCK7) | NP_001258928.1:n.1682+14702T>C | |
| NM_001272000.1:c.1682+14702T>C (DOCK7) | NP_001258929.1:n.1682+14702T>C | |
| NM_001272001.1:c.1682+14702T>C (DOCK7) | NP_001258930.1:n.1682+14702T>C | |
| NM_001272002.1:c.1682+14702T>C (DOCK7) | NP_001258931.1:n.1682+14702T>C | |
| NM_014495.3:c.967A>G (ANGPTL3) | NP_055310.1:p.Ile323Val | |
| NM_033407.3:c.1682+14702T>C (DOCK7) | NP_212132.2:n.1682+14702T>C | |
| XM_005271292.1:c.1682+14702T>C (DOCK7) | XP_005271349.1:n.1682+14702T>C | |
| XM_011542326.1:c.1682+14702T>C (DOCK7) | XP_011540628.1:n.1682+14702T>C | |
| XM_011542327.1:c.1682+14702T>C (DOCK7) | XP_011540629.1:n.1682+14702T>C | |
| XM_011542328.1:c.1682+14702T>C (DOCK7) | XP_011540630.1:n.1682+14702T>C | |
| XM_011542329.1:c.1682+14702T>C (DOCK7) | XP_011540631.1:n.1682+14702T>C | |
| XM_011542330.1:c.1682+14702T>C (DOCK7) | XP_011540632.1:n.1682+14702T>C | |
| NM_001330614.1:c.1682+14702T>C (DOCK7) | NP_001317543.1:n.1682+14702T>C | |
| XM_011542326.2:c.1682+14702T>C (DOCK7) | XP_011540628.1:n.1682+14702T>C | |
| XM_011542327.2:c.1682+14702T>C (DOCK7) | XP_011540629.1:n.1682+14702T>C | |
| XM_011542328.2:c.1682+14702T>C (DOCK7) | XP_011540630.1:n.1682+14702T>C | |
| XM_011542330.2:c.1682+14702T>C (DOCK7) | XP_011540632.1:n.1682+14702T>C | |
| XM_017002639.1:c.1682+14702T>C (DOCK7) | XP_016858128.1:n.1682+14702T>C | |
| XM_017002640.1:c.1682+14702T>C (DOCK7) | XP_016858129.1:n.1682+14702T>C | |
| NM_001367561.1:c.1682+14702T>C (DOCK7) MANE Select | NP_001354490.1:n.1682+14702T>C | |
| NM_001272002.2:c.1682+14702T>C (DOCK7) | NP_001258931.1:n.1682+14702T>C | |
| NM_014495.4:c.967A>G (ANGPTL3) MANE Select | NP_055310.1:p.Ile323Val | |
| NM_001271999.2:c.1682+14702T>C (DOCK7) | NP_001258928.1:n.1682+14702T>C | |
| NM_001272000.2:c.1682+14702T>C (DOCK7) | NP_001258929.1:n.1682+14702T>C | |
| NM_001272001.2:c.1682+14702T>C (DOCK7) | NP_001258930.1:n.1682+14702T>C | |
| NM_001330614.2:c.1682+14702T>C (DOCK7) | NP_001317543.1:n.1682+14702T>C | |
| NM_033407.4:c.1682+14702T>C (DOCK7) | NP_212132.2:n.1682+14702T>C |