Linked Data
dbSNP Id:
rs1439436787
gnomAD v2:
19-11350595-C-G
gnomAD v4:
19-11239919-C-G
COSMIC:
COSM3742727
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11239919C>G , CM000681.2:g.11239919C>G | GRCh38 |
| NC_000019.9:g.11350595C>G , CM000681.1:g.11350595C>G | GRCh37 |
| NC_000019.8:g.11211595C>G | NCBI36 |
| NG_031953.1:g.27574G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000587656.6:c.1644-1615G>C (DOCK6) | ENSP00000468638.2:n.1644-1615G>C | |
| ENST00000294618.12:c.1644-1615G>C (DOCK6) MANE Select | ENSP00000294618.6:n.1644-1615G>C | |
| ENST00000252453.12:c.282C>G (ANGPTL8) MANE Select | ENSP00000252453.7:p.Ser94Arg | |
| ENST00000294618.11:c.1644-1615G>C (DOCK6) | ENSP00000294618.6:n.1644-1615G>C | |
| ENST00000587543.1:c.23C>G (ANGPTL8) | ||
| ENST00000591200.5:c.1-216C>G (ANGPTL8) | ENSP00000464941.1:n.1-216C>G | |
| ENST00000616433.4:c.282C>G (ANGPTL8) | ENSP00000479969.1:p.Ser94Arg | |
| NM_018687.6:c.282C>G (ANGPTL8) | NP_061157.3:p.Ser94Arg | |
| NM_020812.3:c.1644-1615G>C (DOCK6) | NP_065863.2:n.1644-1615G>C | |
| XM_005260000.2:c.1644-1615G>C (DOCK6) | XP_005260057.1:n.1644-1615G>C | |
| XM_005260001.2:c.1644-1615G>C (DOCK6) | XP_005260058.1:n.1644-1615G>C | |
| XM_011528150.1:c.1677-1615G>C (DOCK6) | XP_011526452.1:n.1677-1615G>C | |
| XM_011528151.1:c.1677-1615G>C (DOCK6) | XP_011526453.1:n.1677-1615G>C | |
| XM_011528152.1:c.1677-1615G>C (DOCK6) | XP_011526454.1:n.1677-1615G>C | |
| XM_011528153.1:c.1677-1615G>C (DOCK6) | XP_011526455.1:n.1677-1615G>C | |
| XR_936195.1:n.1738-1615G>C (DOCK6) | ||
| XR_936196.1:n.1738-1615G>C (DOCK6) | ||
| XR_936197.1:n.1738-1615G>C (DOCK6) | ||
| XR_936198.1:n.1738-1615G>C (DOCK6) | ||
| NM_001367830.1:c.1644-1615G>C (DOCK6) | NP_001354759.1:n.1644-1615G>C | |
| NM_018687.7:c.282C>G (ANGPTL8) MANE Select | NP_061157.3:p.Ser94Arg | |
| NM_020812.4:c.1644-1615G>C (DOCK6) MANE Select | NP_065863.2:n.1644-1615G>C |