Linked Data
dbSNP Id:
rs765761643
ExAC:
8:100887782 C / G
gnomAD v2:
8-100887782-C-G
gnomAD v3:
8-99875554-C-G
gnomAD v4:
8-99875554-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99875554C>G , CM000670.2:g.99875554C>G | GRCh38 |
| NC_000008.10:g.100887782C>G , CM000670.1:g.100887782C>G | GRCh37 |
| NC_000008.9:g.100956958C>G | NCBI36 |
| NG_007098.2:g.867289C>G , LRG_351:g.867289C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682153.1:c.*1611C>G (VPS13B) | ENSP00000507923.1:n.*1611C>G | |
| ENST00000682358.1:n.12587C>G (VPS13B) | ||
| ENST00000683334.1:c.*7639C>G (VPS13B) | ENSP00000507369.1:n.*7639C>G | |
| ENST00000357162.7:c.11882C>G (VPS13B) MANE Select | ENSP00000349685.2:p.Pro3961Arg | |
| ENST00000358544.7:c.11957C>G (VPS13B) MANE Plus Clinical | ENSP00000351346.2:p.Pro3986Arg | |
| ENST00000357162.6:c.11882C>G (VPS13B) | ENSP00000349685.2:p.Pro3961Arg | |
| ENST00000358544.6:c.11957C>G (VPS13B) | ENSP00000351346.2:p.Pro3986Arg | |
| ENST00000493587.1:n.1459C>G (VPS13B) | ||
| ENST00000520517.5:c.*142-462G>C (COX6C) | ENSP00000429991.1:n.*142-462G>C | |
| ENST00000522934.5:c.*142-2261G>C (COX6C) | ENSP00000428702.1:n.*142-2261G>C | |
| NM_017890.4:c.11957C>G , LRG_351t1:c.11957C>G (VPS13B) | NP_060360.3:p.Pro3986Arg | |
| NM_152564.4:c.11882C>G , LRG_351t2:c.11882C>G (VPS13B) | NP_689777.3:p.Pro3961Arg | |
| XM_005250800.2:c.11957C>G (VPS13B) | XP_005250857.1:p.Pro3986Arg | |
| XM_005250801.3:c.11957C>G (VPS13B) | XP_005250858.1:p.Pro3986Arg | |
| XM_011516848.1:c.11954C>G (VPS13B) | XP_011515150.1:p.Pro3985Arg | |
| XM_011516849.1:c.11879C>G (VPS13B) | XP_011515151.1:p.Pro3960Arg | |
| XM_011516850.1:c.11579C>G (VPS13B) | XP_011515152.1:p.Pro3860Arg | |
| XM_011516851.1:c.8843C>G (VPS13B) | XP_011515153.1:p.Pro2948Arg | |
| XM_011516852.1:c.8843C>G (VPS13B) | XP_011515154.1:p.Pro2948Arg | |
| XM_011516854.1:c.7736C>G (VPS13B) | XP_011515156.1:p.Pro2579Arg | |
| XM_005250800.3:c.11957C>G (VPS13B) | XP_005250857.1:p.Pro3986Arg | |
| XM_005250801.5:c.11957C>G (VPS13B) | XP_005250858.1:p.Pro3986Arg | |
| XM_011516848.2:c.11954C>G (VPS13B) | XP_011515150.1:p.Pro3985Arg | |
| XM_011516849.2:c.11879C>G (VPS13B) | XP_011515151.1:p.Pro3960Arg | |
| XM_011516850.2:c.11579C>G (VPS13B) | XP_011515152.1:p.Pro3860Arg | |
| XM_011516851.2:c.8843C>G (VPS13B) | XP_011515153.1:p.Pro2948Arg | |
| XM_011516852.2:c.8843C>G (VPS13B) | XP_011515154.1:p.Pro2948Arg | |
| XM_011516854.2:c.7736C>G (VPS13B) | XP_011515156.1:p.Pro2579Arg | |
| XM_017013109.1:c.11762C>G (VPS13B) | XP_016868598.1:p.Pro3921Arg | |
| XM_017013111.1:c.8843C>G (VPS13B) | XP_016868600.1:p.Pro2948Arg | |
| XM_017013112.1:c.7514C>G (VPS13B) | XP_016868601.1:p.Pro2505Arg | |
| XM_024447074.1:c.10742C>G (VPS13B) | XP_024302842.1:p.Pro3581Arg | |
| NM_017890.5:c.11957C>G (VPS13B) MANE Plus Clinical | NP_060360.3:p.Pro3986Arg | |
| NM_152564.5:c.11882C>G (VPS13B) MANE Select | NP_689777.3:p.Pro3961Arg |