Linked Data
ClinVar Variation Id:
522330
dbSNP Id:
rs200307398
ExAC:
19:11323999 C / T
gnomAD v2:
19-11323999-C-T
gnomAD v3:
19-11213323-C-T
gnomAD v4:
19-11213323-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11213323C>T , CM000681.2:g.11213323C>T | GRCh38 |
| NC_000019.9:g.11323999C>T , CM000681.1:g.11323999C>T | GRCh37 |
| NC_000019.8:g.11184999C>T | NCBI36 |
| NG_031953.1:g.54170G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000587656.6:c.4449G>A (DOCK6) | ENSP00000468638.2:p.Pro1483= | |
| ENST00000294618.12:c.4344G>A (DOCK6) MANE Select | ENSP00000294618.6:p.Pro1448= | |
| ENST00000294618.11:c.4344G>A (DOCK6) | ENSP00000294618.6:p.Pro1448= | |
| ENST00000587656.5:c.2209G>A (DOCK6) | ||
| NM_020812.3:c.4344G>A (DOCK6) | NP_065863.2:p.Pro1448= | |
| XM_005260000.2:c.4542G>A (DOCK6) | XP_005260057.1:p.Pro1514= | |
| XM_005260001.2:c.4449G>A (DOCK6) | XP_005260058.1:p.Pro1483= | |
| XM_006722804.2:c.1680G>A (DOCK6) | XP_006722867.1:p.Pro560= | |
| XM_011528150.1:c.4482G>A (DOCK6) | XP_011526452.1:p.Pro1494= | |
| XM_011528151.1:c.4470G>A (DOCK6) | XP_011526453.1:p.Pro1490= | |
| XM_011528152.1:c.4377G>A (DOCK6) | XP_011526454.1:p.Pro1459= | |
| XR_936195.1:n.4543G>A (DOCK6) | ||
| XR_936315.1:n.538-2814C>T (DOCK6-AS1) | ||
| NR_134909.1:n.538-2814C>T (DOCK6-AS1) | ||
| XM_006722804.3:c.1680G>A (DOCK6) | XP_006722867.1:p.Pro560= | |
| NM_001367830.1:c.4449G>A (DOCK6) | NP_001354759.1:p.Pro1483= | |
| NM_020812.4:c.4344G>A (DOCK6) MANE Select | NP_065863.2:p.Pro1448= |