Linked Data
ClinVar Variation Id:
1086613
ClinVar RCV Id:
RCV001404424
dbSNP Id:
rs1195954184
gnomAD v3:
8-99875483-G-A
gnomAD v4:
8-99875483-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99875483G>A , CM000670.2:g.99875483G>A | GRCh38 |
| NC_000008.10:g.100887711G>A , CM000670.1:g.100887711G>A | GRCh37 |
| NC_000008.9:g.100956887G>A | NCBI36 |
| NG_007098.2:g.867218G>A , LRG_351:g.867218G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682153.1:c.*1540G>A (VPS13B) | ENSP00000507923.1:n.*1540G>A | |
| ENST00000682358.1:n.12516G>A (VPS13B) | ||
| ENST00000683334.1:c.*7568G>A (VPS13B) | ENSP00000507369.1:n.*7568G>A | |
| ENST00000357162.7:c.11811G>A (VPS13B) MANE Select | ENSP00000349685.2:p.Lys3937= | |
| ENST00000358544.7:c.11886G>A (VPS13B) MANE Plus Clinical | ENSP00000351346.2:p.Lys3962= | |
| ENST00000357162.6:c.11811G>A (VPS13B) | ENSP00000349685.2:p.Lys3937= | |
| ENST00000358544.6:c.11886G>A (VPS13B) | ENSP00000351346.2:p.Lys3962= | |
| ENST00000493587.1:n.1388G>A (VPS13B) | ||
| ENST00000520517.5:c.*142-391C>T (COX6C) | ENSP00000429991.1:n.*142-391C>T | |
| ENST00000522934.5:c.*142-2190C>T (COX6C) | ENSP00000428702.1:n.*142-2190C>T | |
| NM_017890.4:c.11886G>A , LRG_351t1:c.11886G>A (VPS13B) | NP_060360.3:p.Lys3962= | |
| NM_152564.4:c.11811G>A , LRG_351t2:c.11811G>A (VPS13B) | NP_689777.3:p.Lys3937= | |
| XM_005250800.2:c.11886G>A (VPS13B) | XP_005250857.1:p.Lys3962= | |
| XM_005250801.3:c.11886G>A (VPS13B) | XP_005250858.1:p.Lys3962= | |
| XM_011516848.1:c.11883G>A (VPS13B) | XP_011515150.1:p.Lys3961= | |
| XM_011516849.1:c.11808G>A (VPS13B) | XP_011515151.1:p.Lys3936= | |
| XM_011516850.1:c.11508G>A (VPS13B) | XP_011515152.1:p.Lys3836= | |
| XM_011516851.1:c.8772G>A (VPS13B) | XP_011515153.1:p.Lys2924= | |
| XM_011516852.1:c.8772G>A (VPS13B) | XP_011515154.1:p.Lys2924= | |
| XM_011516854.1:c.7665G>A (VPS13B) | XP_011515156.1:p.Lys2555= | |
| XM_005250800.3:c.11886G>A (VPS13B) | XP_005250857.1:p.Lys3962= | |
| XM_005250801.5:c.11886G>A (VPS13B) | XP_005250858.1:p.Lys3962= | |
| XM_011516848.2:c.11883G>A (VPS13B) | XP_011515150.1:p.Lys3961= | |
| XM_011516849.2:c.11808G>A (VPS13B) | XP_011515151.1:p.Lys3936= | |
| XM_011516850.2:c.11508G>A (VPS13B) | XP_011515152.1:p.Lys3836= | |
| XM_011516851.2:c.8772G>A (VPS13B) | XP_011515153.1:p.Lys2924= | |
| XM_011516852.2:c.8772G>A (VPS13B) | XP_011515154.1:p.Lys2924= | |
| XM_011516854.2:c.7665G>A (VPS13B) | XP_011515156.1:p.Lys2555= | |
| XM_017013109.1:c.11691G>A (VPS13B) | XP_016868598.1:p.Lys3897= | |
| XM_017013111.1:c.8772G>A (VPS13B) | XP_016868600.1:p.Lys2924= | |
| XM_017013112.1:c.7443G>A (VPS13B) | XP_016868601.1:p.Lys2481= | |
| XM_024447074.1:c.10671G>A (VPS13B) | XP_024302842.1:p.Lys3557= | |
| NM_017890.5:c.11886G>A (VPS13B) MANE Plus Clinical | NP_060360.3:p.Lys3962= | |
| NM_152564.5:c.11811G>A (VPS13B) MANE Select | NP_689777.3:p.Lys3937= |