Linked Data
ClinVar Variation Id:
55815
ClinVar RCV Id:
RCV000049240
dbSNP Id:
rs397509399
PubMed:
PMID:23522784
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11214650C>G , CM000681.2:g.11214650C>G | GRCh38 |
| NC_000019.9:g.11325326C>G , CM000681.1:g.11325326C>G | GRCh37 |
| NC_000019.8:g.11186326C>G | NCBI36 |
| NG_031953.1:g.52843G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000587656.6:c.4212-1G>C (DOCK6) | ENSP00000468638.2:n.4212-1G>C | |
| ENST00000294618.12:c.4107-1G>C (DOCK6) MANE Select | ENSP00000294618.6:n.4107-1G>C | |
| ENST00000294618.11:c.4107-1G>C (DOCK6) | ENSP00000294618.6:n.4107-1G>C | |
| ENST00000587656.5:c.1972-1G>C (DOCK6) | ||
| NM_020812.3:c.4107-1G>C (DOCK6) | NP_065863.2:n.4107-1G>C | |
| XM_005260000.2:c.4305-1G>C (DOCK6) | XP_005260057.1:n.4305-1G>C | |
| XM_005260001.2:c.4212-1G>C (DOCK6) | XP_005260058.1:n.4212-1G>C | |
| XM_006722804.2:c.1443-1G>C (DOCK6) | XP_006722867.1:n.1443-1G>C | |
| XM_011528150.1:c.4245-1G>C (DOCK6) | XP_011526452.1:n.4245-1G>C | |
| XM_011528151.1:c.4233-1G>C (DOCK6) | XP_011526453.1:n.4233-1G>C | |
| XM_011528152.1:c.4140-1G>C (DOCK6) | XP_011526454.1:n.4140-1G>C | |
| XR_936195.1:n.4306-1G>C (DOCK6) | ||
| XR_936315.1:n.538-1487C>G (DOCK6-AS1) | ||
| NR_134909.1:n.538-1487C>G (DOCK6-AS1) | ||
| XM_006722804.3:c.1443-1G>C (DOCK6) | XP_006722867.1:n.1443-1G>C | |
| NM_001367830.1:c.4212-1G>C (DOCK6) | NP_001354759.1:n.4212-1G>C | |
| NM_020812.4:c.4107-1G>C (DOCK6) MANE Select | NP_065863.2:n.4107-1G>C |