Linked Data
ClinVar Variation Id:
2201975
dbSNP Id:
rs184614305
gnomAD v2:
8-100887690-A-T
gnomAD v3:
8-99875462-A-T
gnomAD v4:
8-99875462-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99875462A>T , CM000670.2:g.99875462A>T | GRCh38 |
| NC_000008.10:g.100887690A>T , CM000670.1:g.100887690A>T | GRCh37 |
| NC_000008.9:g.100956866A>T | NCBI36 |
| NG_007098.2:g.867197A>T , LRG_351:g.867197A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682153.1:c.*1519A>T (VPS13B) | ENSP00000507923.1:n.*1519A>T | |
| ENST00000682358.1:n.12495A>T (VPS13B) | ||
| ENST00000683334.1:c.*7547A>T (VPS13B) | ENSP00000507369.1:n.*7547A>T | |
| ENST00000357162.7:c.11790A>T (VPS13B) MANE Select | ENSP00000349685.2:p.Arg3930Ser | |
| ENST00000358544.7:c.11865A>T (VPS13B) MANE Plus Clinical | ENSP00000351346.2:p.Arg3955Ser | |
| ENST00000357162.6:c.11790A>T (VPS13B) | ENSP00000349685.2:p.Arg3930Ser | |
| ENST00000358544.6:c.11865A>T (VPS13B) | ENSP00000351346.2:p.Arg3955Ser | |
| ENST00000493587.1:n.1367A>T (VPS13B) | ||
| ENST00000520517.5:c.*142-370T>A (COX6C) | ENSP00000429991.1:n.*142-370T>A | |
| ENST00000522934.5:c.*142-2169T>A (COX6C) | ENSP00000428702.1:n.*142-2169T>A | |
| NM_017890.4:c.11865A>T , LRG_351t1:c.11865A>T (VPS13B) | NP_060360.3:p.Arg3955Ser | |
| NM_152564.4:c.11790A>T , LRG_351t2:c.11790A>T (VPS13B) | NP_689777.3:p.Arg3930Ser | |
| XM_005250800.2:c.11865A>T (VPS13B) | XP_005250857.1:p.Arg3955Ser | |
| XM_005250801.3:c.11865A>T (VPS13B) | XP_005250858.1:p.Arg3955Ser | |
| XM_011516848.1:c.11862A>T (VPS13B) | XP_011515150.1:p.Arg3954Ser | |
| XM_011516849.1:c.11787A>T (VPS13B) | XP_011515151.1:p.Arg3929Ser | |
| XM_011516850.1:c.11487A>T (VPS13B) | XP_011515152.1:p.Arg3829Ser | |
| XM_011516851.1:c.8751A>T (VPS13B) | XP_011515153.1:p.Arg2917Ser | |
| XM_011516852.1:c.8751A>T (VPS13B) | XP_011515154.1:p.Arg2917Ser | |
| XM_011516854.1:c.7644A>T (VPS13B) | XP_011515156.1:p.Arg2548Ser | |
| XM_005250800.3:c.11865A>T (VPS13B) | XP_005250857.1:p.Arg3955Ser | |
| XM_005250801.5:c.11865A>T (VPS13B) | XP_005250858.1:p.Arg3955Ser | |
| XM_011516848.2:c.11862A>T (VPS13B) | XP_011515150.1:p.Arg3954Ser | |
| XM_011516849.2:c.11787A>T (VPS13B) | XP_011515151.1:p.Arg3929Ser | |
| XM_011516850.2:c.11487A>T (VPS13B) | XP_011515152.1:p.Arg3829Ser | |
| XM_011516851.2:c.8751A>T (VPS13B) | XP_011515153.1:p.Arg2917Ser | |
| XM_011516852.2:c.8751A>T (VPS13B) | XP_011515154.1:p.Arg2917Ser | |
| XM_011516854.2:c.7644A>T (VPS13B) | XP_011515156.1:p.Arg2548Ser | |
| XM_017013109.1:c.11670A>T (VPS13B) | XP_016868598.1:p.Arg3890Ser | |
| XM_017013111.1:c.8751A>T (VPS13B) | XP_016868600.1:p.Arg2917Ser | |
| XM_017013112.1:c.7422A>T (VPS13B) | XP_016868601.1:p.Arg2474Ser | |
| XM_024447074.1:c.10650A>T (VPS13B) | XP_024302842.1:p.Arg3550Ser | |
| NM_017890.5:c.11865A>T (VPS13B) MANE Plus Clinical | NP_060360.3:p.Arg3955Ser | |
| NM_152564.5:c.11790A>T (VPS13B) MANE Select | NP_689777.3:p.Arg3930Ser |