Linked Data
ClinVar Variation Id:
262656
dbSNP Id:
rs147710096
ExAC:
8:100887687 C / T
gnomAD v2:
8-100887687-C-T
gnomAD v3:
8-99875459-C-T
gnomAD v4:
8-99875459-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99875459C>T , CM000670.2:g.99875459C>T | GRCh38 |
| NC_000008.10:g.100887687C>T , CM000670.1:g.100887687C>T | GRCh37 |
| NC_000008.9:g.100956863C>T | NCBI36 |
| NG_007098.2:g.867194C>T , LRG_351:g.867194C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682153.1:c.*1516C>T (VPS13B) | ENSP00000507923.1:n.*1516C>T | |
| ENST00000682358.1:n.12492C>T (VPS13B) | ||
| ENST00000683334.1:c.*7544C>T (VPS13B) | ENSP00000507369.1:n.*7544C>T | |
| ENST00000357162.7:c.11787C>T (VPS13B) MANE Select | ENSP00000349685.2:p.Asn3929= | |
| ENST00000358544.7:c.11862C>T (VPS13B) MANE Plus Clinical | ENSP00000351346.2:p.Asn3954= | |
| ENST00000357162.6:c.11787C>T (VPS13B) | ENSP00000349685.2:p.Asn3929= | |
| ENST00000358544.6:c.11862C>T (VPS13B) | ENSP00000351346.2:p.Asn3954= | |
| ENST00000493587.1:n.1364C>T (VPS13B) | ||
| ENST00000520517.5:c.*142-367G>A (COX6C) | ENSP00000429991.1:n.*142-367G>A | |
| ENST00000522934.5:c.*142-2166G>A (COX6C) | ENSP00000428702.1:n.*142-2166G>A | |
| NM_017890.4:c.11862C>T , LRG_351t1:c.11862C>T (VPS13B) | NP_060360.3:p.Asn3954= | |
| NM_152564.4:c.11787C>T , LRG_351t2:c.11787C>T (VPS13B) | NP_689777.3:p.Asn3929= | |
| XM_005250800.2:c.11862C>T (VPS13B) | XP_005250857.1:p.Asn3954= | |
| XM_005250801.3:c.11862C>T (VPS13B) | XP_005250858.1:p.Asn3954= | |
| XM_011516848.1:c.11859C>T (VPS13B) | XP_011515150.1:p.Asn3953= | |
| XM_011516849.1:c.11784C>T (VPS13B) | XP_011515151.1:p.Asn3928= | |
| XM_011516850.1:c.11484C>T (VPS13B) | XP_011515152.1:p.Asn3828= | |
| XM_011516851.1:c.8748C>T (VPS13B) | XP_011515153.1:p.Asn2916= | |
| XM_011516852.1:c.8748C>T (VPS13B) | XP_011515154.1:p.Asn2916= | |
| XM_011516854.1:c.7641C>T (VPS13B) | XP_011515156.1:p.Asn2547= | |
| XM_005250800.3:c.11862C>T (VPS13B) | XP_005250857.1:p.Asn3954= | |
| XM_005250801.5:c.11862C>T (VPS13B) | XP_005250858.1:p.Asn3954= | |
| XM_011516848.2:c.11859C>T (VPS13B) | XP_011515150.1:p.Asn3953= | |
| XM_011516849.2:c.11784C>T (VPS13B) | XP_011515151.1:p.Asn3928= | |
| XM_011516850.2:c.11484C>T (VPS13B) | XP_011515152.1:p.Asn3828= | |
| XM_011516851.2:c.8748C>T (VPS13B) | XP_011515153.1:p.Asn2916= | |
| XM_011516852.2:c.8748C>T (VPS13B) | XP_011515154.1:p.Asn2916= | |
| XM_011516854.2:c.7641C>T (VPS13B) | XP_011515156.1:p.Asn2547= | |
| XM_017013109.1:c.11667C>T (VPS13B) | XP_016868598.1:p.Asn3889= | |
| XM_017013111.1:c.8748C>T (VPS13B) | XP_016868600.1:p.Asn2916= | |
| XM_017013112.1:c.7419C>T (VPS13B) | XP_016868601.1:p.Asn2473= | |
| XM_024447074.1:c.10647C>T (VPS13B) | XP_024302842.1:p.Asn3549= | |
| NM_017890.5:c.11862C>T (VPS13B) MANE Plus Clinical | NP_060360.3:p.Asn3954= | |
| NM_152564.5:c.11787C>T (VPS13B) MANE Select | NP_689777.3:p.Asn3929= |