Linked Data
ClinVar Variation Id:
445548
dbSNP Id:
rs112911897
ExAC:
19:11326585 G / A
gnomAD v2:
19-11326585-G-A
gnomAD v3:
19-11215909-G-A
gnomAD v4:
19-11215909-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11215909G>A , CM000681.2:g.11215909G>A | GRCh38 |
| NC_000019.9:g.11326585G>A , CM000681.1:g.11326585G>A | GRCh37 |
| NC_000019.8:g.11187585G>A | NCBI36 |
| NG_031953.1:g.51584C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000587656.6:c.4018C>T (DOCK6) | ENSP00000468638.2:p.Arg1340Cys | |
| ENST00000294618.12:c.3913C>T (DOCK6) MANE Select | ENSP00000294618.6:p.Arg1305Cys | |
| ENST00000294618.11:c.3913C>T (DOCK6) | ENSP00000294618.6:p.Arg1305Cys | |
| ENST00000587656.5:c.1778C>T (DOCK6) | ||
| ENST00000588429.1:n.268C>T (DOCK6) | ||
| NM_020812.3:c.3913C>T (DOCK6) | NP_065863.2:p.Arg1305Cys | |
| XM_005260000.2:c.4111C>T (DOCK6) | XP_005260057.1:p.Arg1371Cys | |
| XM_005260001.2:c.4018C>T (DOCK6) | XP_005260058.1:p.Arg1340Cys | |
| XM_006722804.2:c.1249C>T (DOCK6) | XP_006722867.1:p.Arg417Cys | |
| XM_011528150.1:c.4051C>T (DOCK6) | XP_011526452.1:p.Arg1351Cys | |
| XM_011528151.1:c.4039C>T (DOCK6) | XP_011526453.1:p.Arg1347Cys | |
| XM_011528152.1:c.3946C>T (DOCK6) | XP_011526454.1:p.Arg1316Cys | |
| XM_011528153.1:c.4051C>T (DOCK6) | XP_011526455.1:p.Arg1351Cys | |
| XR_936195.1:n.4112C>T (DOCK6) | ||
| XR_936315.1:n.538-228G>A (DOCK6-AS1) | ||
| NR_134909.1:n.538-228G>A (DOCK6-AS1) | ||
| XM_006722804.3:c.1249C>T (DOCK6) | XP_006722867.1:p.Arg417Cys | |
| NM_001367830.1:c.4018C>T (DOCK6) | NP_001354759.1:p.Arg1340Cys | |
| NM_020812.4:c.3913C>T (DOCK6) MANE Select | NP_065863.2:p.Arg1305Cys |