Linked Data
ClinVar Variation Id:
2028761
ClinVar RCV Id:
RCV002876302
gnomAD v4:
8-99875663-T-C
MyVariant Identifiers:
chr8:g.100887891T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99875663T>C , CM000670.2:g.99875663T>C | GRCh38 |
| NC_000008.10:g.100887891T>C , CM000670.1:g.100887891T>C | GRCh37 |
| NC_000008.9:g.100957067T>C | NCBI36 |
| NG_007098.2:g.867398T>C , LRG_351:g.867398T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682153.1:c.*1720T>C (VPS13B) | ENSP00000507923.1:n.*1720T>C | |
| ENST00000682358.1:n.12696T>C (VPS13B) | ||
| ENST00000683334.1:c.*7748T>C (VPS13B) | ENSP00000507369.1:n.*7748T>C | |
| ENST00000357162.7:c.11991T>C (VPS13B) MANE Select | ENSP00000349685.2:p.Pro3997= | |
| ENST00000358544.7:c.12066T>C (VPS13B) MANE Plus Clinical | ENSP00000351346.2:p.Pro4022= | |
| ENST00000357162.6:c.11991T>C (VPS13B) | ENSP00000349685.2:p.Pro3997= | |
| ENST00000358544.6:c.12066T>C (VPS13B) | ENSP00000351346.2:p.Pro4022= | |
| ENST00000493587.1:n.1568T>C (VPS13B) | ||
| ENST00000520517.5:c.*142-571A>G (COX6C) | ENSP00000429991.1:n.*142-571A>G | |
| ENST00000522934.5:c.*142-2370A>G (COX6C) | ENSP00000428702.1:n.*142-2370A>G | |
| NM_017890.4:c.12066T>C , LRG_351t1:c.12066T>C (VPS13B) | NP_060360.3:p.Pro4022= | |
| NM_152564.4:c.11991T>C , LRG_351t2:c.11991T>C (VPS13B) | NP_689777.3:p.Pro3997= | |
| XM_005250800.2:c.12066T>C (VPS13B) | XP_005250857.1:p.Pro4022= | |
| XM_005250801.3:c.12066T>C (VPS13B) | XP_005250858.1:p.Pro4022= | |
| XM_011516848.1:c.12063T>C (VPS13B) | XP_011515150.1:p.Pro4021= | |
| XM_011516849.1:c.11988T>C (VPS13B) | XP_011515151.1:p.Pro3996= | |
| XM_011516850.1:c.11688T>C (VPS13B) | XP_011515152.1:p.Pro3896= | |
| XM_011516851.1:c.8952T>C (VPS13B) | XP_011515153.1:p.Pro2984= | |
| XM_011516852.1:c.8952T>C (VPS13B) | XP_011515154.1:p.Pro2984= | |
| XM_011516854.1:c.7845T>C (VPS13B) | XP_011515156.1:p.Pro2615= | |
| XM_005250800.3:c.12066T>C (VPS13B) | XP_005250857.1:p.Pro4022= | |
| XM_005250801.5:c.12066T>C (VPS13B) | XP_005250858.1:p.Pro4022= | |
| XM_011516848.2:c.12063T>C (VPS13B) | XP_011515150.1:p.Pro4021= | |
| XM_011516849.2:c.11988T>C (VPS13B) | XP_011515151.1:p.Pro3996= | |
| XM_011516850.2:c.11688T>C (VPS13B) | XP_011515152.1:p.Pro3896= | |
| XM_011516851.2:c.8952T>C (VPS13B) | XP_011515153.1:p.Pro2984= | |
| XM_011516852.2:c.8952T>C (VPS13B) | XP_011515154.1:p.Pro2984= | |
| XM_011516854.2:c.7845T>C (VPS13B) | XP_011515156.1:p.Pro2615= | |
| XM_017013109.1:c.11871T>C (VPS13B) | XP_016868598.1:p.Pro3957= | |
| XM_017013111.1:c.8952T>C (VPS13B) | XP_016868600.1:p.Pro2984= | |
| XM_017013112.1:c.7623T>C (VPS13B) | XP_016868601.1:p.Pro2541= | |
| XM_024447074.1:c.10851T>C (VPS13B) | XP_024302842.1:p.Pro3617= | |
| NM_017890.5:c.12066T>C (VPS13B) MANE Plus Clinical | NP_060360.3:p.Pro4022= | |
| NM_152564.5:c.11991T>C (VPS13B) MANE Select | NP_689777.3:p.Pro3997= |