Linked Data
ClinVar Variation Id:
1144826
ClinVar RCV Id:
RCV001483475
dbSNP Id:
rs763272836
ExAC:
8:100887783 C / G
gnomAD v2:
8-100887783-C-G
gnomAD v3:
8-99875555-C-G
gnomAD v4:
8-99875555-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99875555C>G , CM000670.2:g.99875555C>G | GRCh38 |
| NC_000008.10:g.100887783C>G , CM000670.1:g.100887783C>G | GRCh37 |
| NC_000008.9:g.100956959C>G | NCBI36 |
| NG_007098.2:g.867290C>G , LRG_351:g.867290C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682153.1:c.*1612C>G (VPS13B) | ENSP00000507923.1:n.*1612C>G | |
| ENST00000682358.1:n.12588C>G (VPS13B) | ||
| ENST00000683334.1:c.*7640C>G (VPS13B) | ENSP00000507369.1:n.*7640C>G | |
| ENST00000357162.7:c.11883C>G (VPS13B) MANE Select | ENSP00000349685.2:p.Pro3961= | |
| ENST00000358544.7:c.11958C>G (VPS13B) MANE Plus Clinical | ENSP00000351346.2:p.Pro3986= | |
| ENST00000357162.6:c.11883C>G (VPS13B) | ENSP00000349685.2:p.Pro3961= | |
| ENST00000358544.6:c.11958C>G (VPS13B) | ENSP00000351346.2:p.Pro3986= | |
| ENST00000493587.1:n.1460C>G (VPS13B) | ||
| ENST00000520517.5:c.*142-463G>C (COX6C) | ENSP00000429991.1:n.*142-463G>C | |
| ENST00000522934.5:c.*142-2262G>C (COX6C) | ENSP00000428702.1:n.*142-2262G>C | |
| NM_017890.4:c.11958C>G , LRG_351t1:c.11958C>G (VPS13B) | NP_060360.3:p.Pro3986= | |
| NM_152564.4:c.11883C>G , LRG_351t2:c.11883C>G (VPS13B) | NP_689777.3:p.Pro3961= | |
| XM_005250800.2:c.11958C>G (VPS13B) | XP_005250857.1:p.Pro3986= | |
| XM_005250801.3:c.11958C>G (VPS13B) | XP_005250858.1:p.Pro3986= | |
| XM_011516848.1:c.11955C>G (VPS13B) | XP_011515150.1:p.Pro3985= | |
| XM_011516849.1:c.11880C>G (VPS13B) | XP_011515151.1:p.Pro3960= | |
| XM_011516850.1:c.11580C>G (VPS13B) | XP_011515152.1:p.Pro3860= | |
| XM_011516851.1:c.8844C>G (VPS13B) | XP_011515153.1:p.Pro2948= | |
| XM_011516852.1:c.8844C>G (VPS13B) | XP_011515154.1:p.Pro2948= | |
| XM_011516854.1:c.7737C>G (VPS13B) | XP_011515156.1:p.Pro2579= | |
| XM_005250800.3:c.11958C>G (VPS13B) | XP_005250857.1:p.Pro3986= | |
| XM_005250801.5:c.11958C>G (VPS13B) | XP_005250858.1:p.Pro3986= | |
| XM_011516848.2:c.11955C>G (VPS13B) | XP_011515150.1:p.Pro3985= | |
| XM_011516849.2:c.11880C>G (VPS13B) | XP_011515151.1:p.Pro3960= | |
| XM_011516850.2:c.11580C>G (VPS13B) | XP_011515152.1:p.Pro3860= | |
| XM_011516851.2:c.8844C>G (VPS13B) | XP_011515153.1:p.Pro2948= | |
| XM_011516852.2:c.8844C>G (VPS13B) | XP_011515154.1:p.Pro2948= | |
| XM_011516854.2:c.7737C>G (VPS13B) | XP_011515156.1:p.Pro2579= | |
| XM_017013109.1:c.11763C>G (VPS13B) | XP_016868598.1:p.Pro3921= | |
| XM_017013111.1:c.8844C>G (VPS13B) | XP_016868600.1:p.Pro2948= | |
| XM_017013112.1:c.7515C>G (VPS13B) | XP_016868601.1:p.Pro2505= | |
| XM_024447074.1:c.10743C>G (VPS13B) | XP_024302842.1:p.Pro3581= | |
| NM_017890.5:c.11958C>G (VPS13B) MANE Plus Clinical | NP_060360.3:p.Pro3986= | |
| NM_152564.5:c.11883C>G (VPS13B) MANE Select | NP_689777.3:p.Pro3961= |