Linked Data
ClinVar Variation Id:
95830
dbSNP Id:
rs73273219
ExAC:
8:100887752 T / C
gnomAD v2:
8-100887752-T-C
gnomAD v3:
8-99875524-T-C
gnomAD v4:
8-99875524-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99875524T>C , CM000670.2:g.99875524T>C | GRCh38 |
| NC_000008.10:g.100887752T>C , CM000670.1:g.100887752T>C | GRCh37 |
| NC_000008.9:g.100956928T>C | NCBI36 |
| NG_007098.2:g.867259T>C , LRG_351:g.867259T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682153.1:c.*1581T>C (VPS13B) | ENSP00000507923.1:n.*1581T>C | |
| ENST00000682358.1:n.12557T>C (VPS13B) | ||
| ENST00000683334.1:c.*7609T>C (VPS13B) | ENSP00000507369.1:n.*7609T>C | |
| ENST00000357162.7:c.11852T>C (VPS13B) MANE Select | ENSP00000349685.2:p.Ile3951Thr | |
| ENST00000358544.7:c.11927T>C (VPS13B) MANE Plus Clinical | ENSP00000351346.2:p.Ile3976Thr | |
| ENST00000357162.6:c.11852T>C (VPS13B) | ENSP00000349685.2:p.Ile3951Thr | |
| ENST00000358544.6:c.11927T>C (VPS13B) | ENSP00000351346.2:p.Ile3976Thr | |
| ENST00000493587.1:n.1429T>C (VPS13B) | ||
| ENST00000520517.5:c.*142-432A>G (COX6C) | ENSP00000429991.1:n.*142-432A>G | |
| ENST00000522934.5:c.*142-2231A>G (COX6C) | ENSP00000428702.1:n.*142-2231A>G | |
| NM_017890.4:c.11927T>C , LRG_351t1:c.11927T>C (VPS13B) | NP_060360.3:p.Ile3976Thr | |
| NM_152564.4:c.11852T>C , LRG_351t2:c.11852T>C (VPS13B) | NP_689777.3:p.Ile3951Thr | |
| XM_005250800.2:c.11927T>C (VPS13B) | XP_005250857.1:p.Ile3976Thr | |
| XM_005250801.3:c.11927T>C (VPS13B) | XP_005250858.1:p.Ile3976Thr | |
| XM_011516848.1:c.11924T>C (VPS13B) | XP_011515150.1:p.Ile3975Thr | |
| XM_011516849.1:c.11849T>C (VPS13B) | XP_011515151.1:p.Ile3950Thr | |
| XM_011516850.1:c.11549T>C (VPS13B) | XP_011515152.1:p.Ile3850Thr | |
| XM_011516851.1:c.8813T>C (VPS13B) | XP_011515153.1:p.Ile2938Thr | |
| XM_011516852.1:c.8813T>C (VPS13B) | XP_011515154.1:p.Ile2938Thr | |
| XM_011516854.1:c.7706T>C (VPS13B) | XP_011515156.1:p.Ile2569Thr | |
| XM_005250800.3:c.11927T>C (VPS13B) | XP_005250857.1:p.Ile3976Thr | |
| XM_005250801.5:c.11927T>C (VPS13B) | XP_005250858.1:p.Ile3976Thr | |
| XM_011516848.2:c.11924T>C (VPS13B) | XP_011515150.1:p.Ile3975Thr | |
| XM_011516849.2:c.11849T>C (VPS13B) | XP_011515151.1:p.Ile3950Thr | |
| XM_011516850.2:c.11549T>C (VPS13B) | XP_011515152.1:p.Ile3850Thr | |
| XM_011516851.2:c.8813T>C (VPS13B) | XP_011515153.1:p.Ile2938Thr | |
| XM_011516852.2:c.8813T>C (VPS13B) | XP_011515154.1:p.Ile2938Thr | |
| XM_011516854.2:c.7706T>C (VPS13B) | XP_011515156.1:p.Ile2569Thr | |
| XM_017013109.1:c.11732T>C (VPS13B) | XP_016868598.1:p.Ile3911Thr | |
| XM_017013111.1:c.8813T>C (VPS13B) | XP_016868600.1:p.Ile2938Thr | |
| XM_017013112.1:c.7484T>C (VPS13B) | XP_016868601.1:p.Ile2495Thr | |
| XM_024447074.1:c.10712T>C (VPS13B) | XP_024302842.1:p.Ile3571Thr | |
| NM_017890.5:c.11927T>C (VPS13B) MANE Plus Clinical | NP_060360.3:p.Ile3976Thr | |
| NM_152564.5:c.11852T>C (VPS13B) MANE Select | NP_689777.3:p.Ile3951Thr |