Linked Data
ClinVar Variation Id:
518284
dbSNP Id:
rs117328686
ExAC:
19:11319636 G / A
gnomAD v2:
19-11319636-G-A
gnomAD v3:
19-11208960-G-A
gnomAD v4:
19-11208960-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11208960G>A , CM000681.2:g.11208960G>A | GRCh38 |
| NC_000019.9:g.11319636G>A , CM000681.1:g.11319636G>A | GRCh37 |
| NC_000019.8:g.11180636G>A | NCBI36 |
| NG_031953.1:g.58533C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000587656.6:c.5000C>T (DOCK6) | ENSP00000468638.2:p.Ala1667Val | |
| ENST00000294618.12:c.4895C>T (DOCK6) MANE Select | ENSP00000294618.6:p.Ala1632Val | |
| ENST00000294618.11:c.4895C>T (DOCK6) | ENSP00000294618.6:p.Ala1632Val | |
| ENST00000587656.5:c.2760C>T (DOCK6) | ||
| NM_020812.3:c.4895C>T (DOCK6) | NP_065863.2:p.Ala1632Val | |
| XM_005260000.2:c.5093C>T (DOCK6) | XP_005260057.1:p.Ala1698Val | |
| XM_005260001.2:c.5000C>T (DOCK6) | XP_005260058.1:p.Ala1667Val | |
| XM_006722804.2:c.2231C>T (DOCK6) | XP_006722867.1:p.Ala744Val | |
| XM_011528150.1:c.5033C>T (DOCK6) | XP_011526452.1:p.Ala1678Val | |
| XM_011528151.1:c.5021C>T (DOCK6) | XP_011526453.1:p.Ala1674Val | |
| XM_011528152.1:c.4928C>T (DOCK6) | XP_011526454.1:p.Ala1643Val | |
| XR_936195.1:n.5094C>T (DOCK6) | ||
| XR_936315.1:n.537+2852G>A (DOCK6-AS1) | ||
| NR_134909.1:n.537+2852G>A (DOCK6-AS1) | ||
| XM_006722804.3:c.2231C>T (DOCK6) | XP_006722867.1:p.Ala744Val | |
| NM_001367830.1:c.5000C>T (DOCK6) | NP_001354759.1:p.Ala1667Val | |
| NM_020812.4:c.4895C>T (DOCK6) MANE Select | NP_065863.2:p.Ala1632Val |