Linked Data
ClinVar Variation Id:
202182
dbSNP Id:
rs200472954
ExAC:
19:11323874 C / T
gnomAD v2:
19-11323874-C-T
gnomAD v3:
19-11213198-C-T
gnomAD v4:
19-11213198-C-T
PubMed:
PMID:21820096
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11213198C>T , CM000681.2:g.11213198C>T | GRCh38 |
| NC_000019.9:g.11323874C>T , CM000681.1:g.11323874C>T | GRCh37 |
| NC_000019.8:g.11184874C>T | NCBI36 |
| NG_031953.1:g.54295G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000587656.6:c.4574G>A (DOCK6) | ENSP00000468638.2:p.Arg1525Gln | |
| ENST00000294618.12:c.4469G>A (DOCK6) MANE Select | ENSP00000294618.6:p.Arg1490Gln | |
| ENST00000294618.11:c.4469G>A (DOCK6) | ENSP00000294618.6:p.Arg1490Gln | |
| ENST00000587656.5:c.2334G>A (DOCK6) | ||
| NM_020812.3:c.4469G>A (DOCK6) | NP_065863.2:p.Arg1490Gln | |
| XM_005260000.2:c.4667G>A (DOCK6) | XP_005260057.1:p.Arg1556Gln | |
| XM_005260001.2:c.4574G>A (DOCK6) | XP_005260058.1:p.Arg1525Gln | |
| XM_006722804.2:c.1805G>A (DOCK6) | XP_006722867.1:p.Arg602Gln | |
| XM_011528150.1:c.4607G>A (DOCK6) | XP_011526452.1:p.Arg1536Gln | |
| XM_011528151.1:c.4595G>A (DOCK6) | XP_011526453.1:p.Arg1532Gln | |
| XM_011528152.1:c.4502G>A (DOCK6) | XP_011526454.1:p.Arg1501Gln | |
| XR_936195.1:n.4668G>A (DOCK6) | ||
| XR_936315.1:n.538-2939C>T (DOCK6-AS1) | ||
| NR_134909.1:n.538-2939C>T (DOCK6-AS1) | ||
| XM_006722804.3:c.1805G>A (DOCK6) | XP_006722867.1:p.Arg602Gln | |
| NM_001367830.1:c.4574G>A (DOCK6) | NP_001354759.1:p.Arg1525Gln | |
| NM_020812.4:c.4469G>A (DOCK6) MANE Select | NP_065863.2:p.Arg1490Gln |