Linked Data
dbSNP Id:
rs1235676733
gnomAD v2:
8-100888025-A-G
gnomAD v3:
8-99875797-A-G
gnomAD v4:
8-99875797-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99875797A>G , CM000670.2:g.99875797A>G | GRCh38 |
| NC_000008.10:g.100888025A>G , CM000670.1:g.100888025A>G | GRCh37 |
| NC_000008.9:g.100957201A>G | NCBI36 |
| NG_007098.2:g.867532A>G , LRG_351:g.867532A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682153.1:c.*1854A>G (VPS13B) | ENSP00000507923.1:n.*1854A>G | |
| ENST00000682358.1:n.12830A>G (VPS13B) | ||
| ENST00000683334.1:c.*7882A>G (VPS13B) | ENSP00000507369.1:n.*7882A>G | |
| ENST00000357162.7:c.*131A>G (VPS13B) MANE Select | ENSP00000349685.2:n.*131A>G | |
| ENST00000358544.7:c.*131A>G (VPS13B) MANE Plus Clinical | ENSP00000351346.2:n.*131A>G | |
| ENST00000357162.6:c.*131A>G (VPS13B) | ENSP00000349685.2:n.*131A>G | |
| ENST00000358544.6:c.*131A>G (VPS13B) | ENSP00000351346.2:n.*131A>G | |
| ENST00000493587.1:n.1702A>G (VPS13B) | ||
| ENST00000520517.5:c.*142-705T>C (COX6C) | ENSP00000429991.1:n.*142-705T>C | |
| ENST00000522934.5:c.*141+2343T>C (COX6C) | ENSP00000428702.1:n.*141+2343T>C | |
| NM_017890.4:c.*131A>G , LRG_351t1:c.*131A>G (VPS13B) | NP_060360.3:n.*131A>G | |
| NM_152564.4:c.*131A>G , LRG_351t2:c.*131A>G (VPS13B) | NP_689777.3:n.*131A>G | |
| XM_005250800.2:c.*131A>G (VPS13B) | XP_005250857.1:n.*131A>G | |
| XM_005250801.3:c.*131A>G (VPS13B) | XP_005250858.1:n.*131A>G | |
| XM_011516848.1:c.*131A>G (VPS13B) | XP_011515150.1:n.*131A>G | |
| XM_011516849.1:c.*131A>G (VPS13B) | XP_011515151.1:n.*131A>G | |
| XM_011516850.1:c.*131A>G (VPS13B) | XP_011515152.1:n.*131A>G | |
| XM_011516851.1:c.*131A>G (VPS13B) | XP_011515153.1:n.*131A>G | |
| XM_011516852.1:c.*131A>G (VPS13B) | XP_011515154.1:n.*131A>G | |
| XM_011516854.1:c.*131A>G (VPS13B) | XP_011515156.1:n.*131A>G | |
| XM_005250800.3:c.*131A>G (VPS13B) | XP_005250857.1:n.*131A>G | |
| XM_005250801.5:c.*131A>G (VPS13B) | XP_005250858.1:n.*131A>G | |
| XM_011516848.2:c.*131A>G (VPS13B) | XP_011515150.1:n.*131A>G | |
| XM_011516849.2:c.*131A>G (VPS13B) | XP_011515151.1:n.*131A>G | |
| XM_011516850.2:c.*131A>G (VPS13B) | XP_011515152.1:n.*131A>G | |
| XM_011516851.2:c.*131A>G (VPS13B) | XP_011515153.1:n.*131A>G | |
| XM_011516852.2:c.*131A>G (VPS13B) | XP_011515154.1:n.*131A>G | |
| XM_011516854.2:c.*131A>G (VPS13B) | XP_011515156.1:n.*131A>G | |
| XM_017013109.1:c.*131A>G (VPS13B) | XP_016868598.1:n.*131A>G | |
| XM_017013111.1:c.*131A>G (VPS13B) | XP_016868600.1:n.*131A>G | |
| XM_017013112.1:c.*131A>G (VPS13B) | XP_016868601.1:n.*131A>G | |
| XM_024447074.1:c.*131A>G (VPS13B) | XP_024302842.1:n.*131A>G | |
| NM_017890.5:c.*131A>G (VPS13B) MANE Plus Clinical | NP_060360.3:n.*131A>G | |
| NM_152564.5:c.*131A>G (VPS13B) MANE Select | NP_689777.3:n.*131A>G |