Linked Data
ClinVar Variation Id:
998539
ClinVar RCV Id:
RCV001294411
dbSNP Id:
rs774988681
ExAC:
8:100887777 A / C
gnomAD v2:
8-100887777-A-C
gnomAD v3:
8-99875549-A-C
gnomAD v4:
8-99875549-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99875549A>C , CM000670.2:g.99875549A>C | GRCh38 |
| NC_000008.10:g.100887777A>C , CM000670.1:g.100887777A>C | GRCh37 |
| NC_000008.9:g.100956953A>C | NCBI36 |
| NG_007098.2:g.867284A>C , LRG_351:g.867284A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682153.1:c.*1606A>C (VPS13B) | ENSP00000507923.1:n.*1606A>C | |
| ENST00000682358.1:n.12582A>C (VPS13B) | ||
| ENST00000683334.1:c.*7634A>C (VPS13B) | ENSP00000507369.1:n.*7634A>C | |
| ENST00000357162.7:c.11877A>C (VPS13B) MANE Select | ENSP00000349685.2:p.Glu3959Asp | |
| ENST00000358544.7:c.11952A>C (VPS13B) MANE Plus Clinical | ENSP00000351346.2:p.Glu3984Asp | |
| ENST00000357162.6:c.11877A>C (VPS13B) | ENSP00000349685.2:p.Glu3959Asp | |
| ENST00000358544.6:c.11952A>C (VPS13B) | ENSP00000351346.2:p.Glu3984Asp | |
| ENST00000493587.1:n.1454A>C (VPS13B) | ||
| ENST00000520517.5:c.*142-457T>G (COX6C) | ENSP00000429991.1:n.*142-457T>G | |
| ENST00000522934.5:c.*142-2256T>G (COX6C) | ENSP00000428702.1:n.*142-2256T>G | |
| NM_017890.4:c.11952A>C , LRG_351t1:c.11952A>C (VPS13B) | NP_060360.3:p.Glu3984Asp | |
| NM_152564.4:c.11877A>C , LRG_351t2:c.11877A>C (VPS13B) | NP_689777.3:p.Glu3959Asp | |
| XM_005250800.2:c.11952A>C (VPS13B) | XP_005250857.1:p.Glu3984Asp | |
| XM_005250801.3:c.11952A>C (VPS13B) | XP_005250858.1:p.Glu3984Asp | |
| XM_011516848.1:c.11949A>C (VPS13B) | XP_011515150.1:p.Glu3983Asp | |
| XM_011516849.1:c.11874A>C (VPS13B) | XP_011515151.1:p.Glu3958Asp | |
| XM_011516850.1:c.11574A>C (VPS13B) | XP_011515152.1:p.Glu3858Asp | |
| XM_011516851.1:c.8838A>C (VPS13B) | XP_011515153.1:p.Glu2946Asp | |
| XM_011516852.1:c.8838A>C (VPS13B) | XP_011515154.1:p.Glu2946Asp | |
| XM_011516854.1:c.7731A>C (VPS13B) | XP_011515156.1:p.Glu2577Asp | |
| XM_005250800.3:c.11952A>C (VPS13B) | XP_005250857.1:p.Glu3984Asp | |
| XM_005250801.5:c.11952A>C (VPS13B) | XP_005250858.1:p.Glu3984Asp | |
| XM_011516848.2:c.11949A>C (VPS13B) | XP_011515150.1:p.Glu3983Asp | |
| XM_011516849.2:c.11874A>C (VPS13B) | XP_011515151.1:p.Glu3958Asp | |
| XM_011516850.2:c.11574A>C (VPS13B) | XP_011515152.1:p.Glu3858Asp | |
| XM_011516851.2:c.8838A>C (VPS13B) | XP_011515153.1:p.Glu2946Asp | |
| XM_011516852.2:c.8838A>C (VPS13B) | XP_011515154.1:p.Glu2946Asp | |
| XM_011516854.2:c.7731A>C (VPS13B) | XP_011515156.1:p.Glu2577Asp | |
| XM_017013109.1:c.11757A>C (VPS13B) | XP_016868598.1:p.Glu3919Asp | |
| XM_017013111.1:c.8838A>C (VPS13B) | XP_016868600.1:p.Glu2946Asp | |
| XM_017013112.1:c.7509A>C (VPS13B) | XP_016868601.1:p.Glu2503Asp | |
| XM_024447074.1:c.10737A>C (VPS13B) | XP_024302842.1:p.Glu3579Asp | |
| NM_017890.5:c.11952A>C (VPS13B) MANE Plus Clinical | NP_060360.3:p.Glu3984Asp | |
| NM_152564.5:c.11877A>C (VPS13B) MANE Select | NP_689777.3:p.Glu3959Asp |