Linked Data
ClinVar Variation Id:
2103097
ClinVar RCV Id:
RCV003019859
dbSNP Id:
rs996333047
gnomAD v4:
8-99875531-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99875531C>T , CM000670.2:g.99875531C>T | GRCh38 |
| NC_000008.10:g.100887759C>T , CM000670.1:g.100887759C>T | GRCh37 |
| NC_000008.9:g.100956935C>T | NCBI36 |
| NG_007098.2:g.867266C>T , LRG_351:g.867266C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682153.1:c.*1588C>T (VPS13B) | ENSP00000507923.1:n.*1588C>T | |
| ENST00000682358.1:n.12564C>T (VPS13B) | ||
| ENST00000683334.1:c.*7616C>T (VPS13B) | ENSP00000507369.1:n.*7616C>T | |
| ENST00000357162.7:c.11859C>T (VPS13B) MANE Select | ENSP00000349685.2:p.Cys3953= | |
| ENST00000358544.7:c.11934C>T (VPS13B) MANE Plus Clinical | ENSP00000351346.2:p.Cys3978= | |
| ENST00000357162.6:c.11859C>T (VPS13B) | ENSP00000349685.2:p.Cys3953= | |
| ENST00000358544.6:c.11934C>T (VPS13B) | ENSP00000351346.2:p.Cys3978= | |
| ENST00000493587.1:n.1436C>T (VPS13B) | ||
| ENST00000520517.5:c.*142-439G>A (COX6C) | ENSP00000429991.1:n.*142-439G>A | |
| ENST00000522934.5:c.*142-2238G>A (COX6C) | ENSP00000428702.1:n.*142-2238G>A | |
| NM_017890.4:c.11934C>T , LRG_351t1:c.11934C>T (VPS13B) | NP_060360.3:p.Cys3978= | |
| NM_152564.4:c.11859C>T , LRG_351t2:c.11859C>T (VPS13B) | NP_689777.3:p.Cys3953= | |
| XM_005250800.2:c.11934C>T (VPS13B) | XP_005250857.1:p.Cys3978= | |
| XM_005250801.3:c.11934C>T (VPS13B) | XP_005250858.1:p.Cys3978= | |
| XM_011516848.1:c.11931C>T (VPS13B) | XP_011515150.1:p.Cys3977= | |
| XM_011516849.1:c.11856C>T (VPS13B) | XP_011515151.1:p.Cys3952= | |
| XM_011516850.1:c.11556C>T (VPS13B) | XP_011515152.1:p.Cys3852= | |
| XM_011516851.1:c.8820C>T (VPS13B) | XP_011515153.1:p.Cys2940= | |
| XM_011516852.1:c.8820C>T (VPS13B) | XP_011515154.1:p.Cys2940= | |
| XM_011516854.1:c.7713C>T (VPS13B) | XP_011515156.1:p.Cys2571= | |
| XM_005250800.3:c.11934C>T (VPS13B) | XP_005250857.1:p.Cys3978= | |
| XM_005250801.5:c.11934C>T (VPS13B) | XP_005250858.1:p.Cys3978= | |
| XM_011516848.2:c.11931C>T (VPS13B) | XP_011515150.1:p.Cys3977= | |
| XM_011516849.2:c.11856C>T (VPS13B) | XP_011515151.1:p.Cys3952= | |
| XM_011516850.2:c.11556C>T (VPS13B) | XP_011515152.1:p.Cys3852= | |
| XM_011516851.2:c.8820C>T (VPS13B) | XP_011515153.1:p.Cys2940= | |
| XM_011516852.2:c.8820C>T (VPS13B) | XP_011515154.1:p.Cys2940= | |
| XM_011516854.2:c.7713C>T (VPS13B) | XP_011515156.1:p.Cys2571= | |
| XM_017013109.1:c.11739C>T (VPS13B) | XP_016868598.1:p.Cys3913= | |
| XM_017013111.1:c.8820C>T (VPS13B) | XP_016868600.1:p.Cys2940= | |
| XM_017013112.1:c.7491C>T (VPS13B) | XP_016868601.1:p.Cys2497= | |
| XM_024447074.1:c.10719C>T (VPS13B) | XP_024302842.1:p.Cys3573= | |
| NM_017890.5:c.11934C>T (VPS13B) MANE Plus Clinical | NP_060360.3:p.Cys3978= | |
| NM_152564.5:c.11859C>T (VPS13B) MANE Select | NP_689777.3:p.Cys3953= |