Linked Data
ClinVar Variation Id:
518285
dbSNP Id:
rs2304155
ExAC:
19:11326119 A / G
gnomAD v2:
19-11326119-A-G
gnomAD v3:
19-11215443-A-G
gnomAD v4:
19-11215443-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11215443A>G , CM000681.2:g.11215443A>G | GRCh38 |
| NC_000019.9:g.11326119A>G , CM000681.1:g.11326119A>G | GRCh37 |
| NC_000019.8:g.11187119A>G | NCBI36 |
| NG_031953.1:g.52050T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000587656.6:c.4155T>C (DOCK6) | ENSP00000468638.2:p.Asn1385= | |
| ENST00000294618.12:c.4050T>C (DOCK6) MANE Select | ENSP00000294618.6:p.Asn1350= | |
| ENST00000294618.11:c.4050T>C (DOCK6) | ENSP00000294618.6:p.Asn1350= | |
| ENST00000587656.5:c.1915T>C (DOCK6) | ||
| NM_020812.3:c.4050T>C (DOCK6) | NP_065863.2:p.Asn1350= | |
| XM_005260000.2:c.4248T>C (DOCK6) | XP_005260057.1:p.Asn1416= | |
| XM_005260001.2:c.4155T>C (DOCK6) | XP_005260058.1:p.Asn1385= | |
| XM_006722804.2:c.1386T>C (DOCK6) | XP_006722867.1:p.Asn462= | |
| XM_011528150.1:c.4188T>C (DOCK6) | XP_011526452.1:p.Asn1396= | |
| XM_011528151.1:c.4176T>C (DOCK6) | XP_011526453.1:p.Asn1392= | |
| XM_011528152.1:c.4083T>C (DOCK6) | XP_011526454.1:p.Asn1361= | |
| XR_936195.1:n.4249T>C (DOCK6) | ||
| XR_936315.1:n.538-694A>G (DOCK6-AS1) | ||
| NR_134909.1:n.538-694A>G (DOCK6-AS1) | ||
| XM_006722804.3:c.1386T>C (DOCK6) | XP_006722867.1:p.Asn462= | |
| NM_001367830.1:c.4155T>C (DOCK6) | NP_001354759.1:p.Asn1385= | |
| NM_020812.4:c.4050T>C (DOCK6) MANE Select | NP_065863.2:p.Asn1350= |