Linked Data
dbSNP Id:
rs748030248
ExAC:
8:100887719 G / T
gnomAD v2:
8-100887719-G-T
gnomAD v4:
8-99875491-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99875491G>T , CM000670.2:g.99875491G>T | GRCh38 |
| NC_000008.10:g.100887719G>T , CM000670.1:g.100887719G>T | GRCh37 |
| NC_000008.9:g.100956895G>T | NCBI36 |
| NG_007098.2:g.867226G>T , LRG_351:g.867226G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682153.1:c.*1548G>T (VPS13B) | ENSP00000507923.1:n.*1548G>T | |
| ENST00000682358.1:n.12524G>T (VPS13B) | ||
| ENST00000683334.1:c.*7576G>T (VPS13B) | ENSP00000507369.1:n.*7576G>T | |
| ENST00000357162.7:c.11819G>T (VPS13B) MANE Select | ENSP00000349685.2:p.Cys3940Phe | |
| ENST00000358544.7:c.11894G>T (VPS13B) MANE Plus Clinical | ENSP00000351346.2:p.Cys3965Phe | |
| ENST00000357162.6:c.11819G>T (VPS13B) | ENSP00000349685.2:p.Cys3940Phe | |
| ENST00000358544.6:c.11894G>T (VPS13B) | ENSP00000351346.2:p.Cys3965Phe | |
| ENST00000493587.1:n.1396G>T (VPS13B) | ||
| ENST00000520517.5:c.*142-399C>A (COX6C) | ENSP00000429991.1:n.*142-399C>A | |
| ENST00000522934.5:c.*142-2198C>A (COX6C) | ENSP00000428702.1:n.*142-2198C>A | |
| NM_017890.4:c.11894G>T , LRG_351t1:c.11894G>T (VPS13B) | NP_060360.3:p.Cys3965Phe | |
| NM_152564.4:c.11819G>T , LRG_351t2:c.11819G>T (VPS13B) | NP_689777.3:p.Cys3940Phe | |
| XM_005250800.2:c.11894G>T (VPS13B) | XP_005250857.1:p.Cys3965Phe | |
| XM_005250801.3:c.11894G>T (VPS13B) | XP_005250858.1:p.Cys3965Phe | |
| XM_011516848.1:c.11891G>T (VPS13B) | XP_011515150.1:p.Cys3964Phe | |
| XM_011516849.1:c.11816G>T (VPS13B) | XP_011515151.1:p.Cys3939Phe | |
| XM_011516850.1:c.11516G>T (VPS13B) | XP_011515152.1:p.Cys3839Phe | |
| XM_011516851.1:c.8780G>T (VPS13B) | XP_011515153.1:p.Cys2927Phe | |
| XM_011516852.1:c.8780G>T (VPS13B) | XP_011515154.1:p.Cys2927Phe | |
| XM_011516854.1:c.7673G>T (VPS13B) | XP_011515156.1:p.Cys2558Phe | |
| XM_005250800.3:c.11894G>T (VPS13B) | XP_005250857.1:p.Cys3965Phe | |
| XM_005250801.5:c.11894G>T (VPS13B) | XP_005250858.1:p.Cys3965Phe | |
| XM_011516848.2:c.11891G>T (VPS13B) | XP_011515150.1:p.Cys3964Phe | |
| XM_011516849.2:c.11816G>T (VPS13B) | XP_011515151.1:p.Cys3939Phe | |
| XM_011516850.2:c.11516G>T (VPS13B) | XP_011515152.1:p.Cys3839Phe | |
| XM_011516851.2:c.8780G>T (VPS13B) | XP_011515153.1:p.Cys2927Phe | |
| XM_011516852.2:c.8780G>T (VPS13B) | XP_011515154.1:p.Cys2927Phe | |
| XM_011516854.2:c.7673G>T (VPS13B) | XP_011515156.1:p.Cys2558Phe | |
| XM_017013109.1:c.11699G>T (VPS13B) | XP_016868598.1:p.Cys3900Phe | |
| XM_017013111.1:c.8780G>T (VPS13B) | XP_016868600.1:p.Cys2927Phe | |
| XM_017013112.1:c.7451G>T (VPS13B) | XP_016868601.1:p.Cys2484Phe | |
| XM_024447074.1:c.10679G>T (VPS13B) | XP_024302842.1:p.Cys3560Phe | |
| NM_017890.5:c.11894G>T (VPS13B) MANE Plus Clinical | NP_060360.3:p.Cys3965Phe | |
| NM_152564.5:c.11819G>T (VPS13B) MANE Select | NP_689777.3:p.Cys3940Phe |