Linked Data
ClinVar Variation Id:
855811
ClinVar RCV Id:
RCV001061151
dbSNP Id:
rs1209045692
gnomAD v2:
8-100887734-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99875506G>A , CM000670.2:g.99875506G>A | GRCh38 |
| NC_000008.10:g.100887734G>A , CM000670.1:g.100887734G>A | GRCh37 |
| NC_000008.9:g.100956910G>A | NCBI36 |
| NG_007098.2:g.867241G>A , LRG_351:g.867241G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682153.1:c.*1563G>A (VPS13B) | ENSP00000507923.1:n.*1563G>A | |
| ENST00000682358.1:n.12539G>A (VPS13B) | ||
| ENST00000683334.1:c.*7591G>A (VPS13B) | ENSP00000507369.1:n.*7591G>A | |
| ENST00000357162.7:c.11834G>A (VPS13B) MANE Select | ENSP00000349685.2:p.Ser3945Asn | |
| ENST00000358544.7:c.11909G>A (VPS13B) MANE Plus Clinical | ENSP00000351346.2:p.Ser3970Asn | |
| ENST00000357162.6:c.11834G>A (VPS13B) | ENSP00000349685.2:p.Ser3945Asn | |
| ENST00000358544.6:c.11909G>A (VPS13B) | ENSP00000351346.2:p.Ser3970Asn | |
| ENST00000493587.1:n.1411G>A (VPS13B) | ||
| ENST00000520517.5:c.*142-414C>T (COX6C) | ENSP00000429991.1:n.*142-414C>T | |
| ENST00000522934.5:c.*142-2213C>T (COX6C) | ENSP00000428702.1:n.*142-2213C>T | |
| NM_017890.4:c.11909G>A , LRG_351t1:c.11909G>A (VPS13B) | NP_060360.3:p.Ser3970Asn | |
| NM_152564.4:c.11834G>A , LRG_351t2:c.11834G>A (VPS13B) | NP_689777.3:p.Ser3945Asn | |
| XM_005250800.2:c.11909G>A (VPS13B) | XP_005250857.1:p.Ser3970Asn | |
| XM_005250801.3:c.11909G>A (VPS13B) | XP_005250858.1:p.Ser3970Asn | |
| XM_011516848.1:c.11906G>A (VPS13B) | XP_011515150.1:p.Ser3969Asn | |
| XM_011516849.1:c.11831G>A (VPS13B) | XP_011515151.1:p.Ser3944Asn | |
| XM_011516850.1:c.11531G>A (VPS13B) | XP_011515152.1:p.Ser3844Asn | |
| XM_011516851.1:c.8795G>A (VPS13B) | XP_011515153.1:p.Ser2932Asn | |
| XM_011516852.1:c.8795G>A (VPS13B) | XP_011515154.1:p.Ser2932Asn | |
| XM_011516854.1:c.7688G>A (VPS13B) | XP_011515156.1:p.Ser2563Asn | |
| XM_005250800.3:c.11909G>A (VPS13B) | XP_005250857.1:p.Ser3970Asn | |
| XM_005250801.5:c.11909G>A (VPS13B) | XP_005250858.1:p.Ser3970Asn | |
| XM_011516848.2:c.11906G>A (VPS13B) | XP_011515150.1:p.Ser3969Asn | |
| XM_011516849.2:c.11831G>A (VPS13B) | XP_011515151.1:p.Ser3944Asn | |
| XM_011516850.2:c.11531G>A (VPS13B) | XP_011515152.1:p.Ser3844Asn | |
| XM_011516851.2:c.8795G>A (VPS13B) | XP_011515153.1:p.Ser2932Asn | |
| XM_011516852.2:c.8795G>A (VPS13B) | XP_011515154.1:p.Ser2932Asn | |
| XM_011516854.2:c.7688G>A (VPS13B) | XP_011515156.1:p.Ser2563Asn | |
| XM_017013109.1:c.11714G>A (VPS13B) | XP_016868598.1:p.Ser3905Asn | |
| XM_017013111.1:c.8795G>A (VPS13B) | XP_016868600.1:p.Ser2932Asn | |
| XM_017013112.1:c.7466G>A (VPS13B) | XP_016868601.1:p.Ser2489Asn | |
| XM_024447074.1:c.10694G>A (VPS13B) | XP_024302842.1:p.Ser3565Asn | |
| NM_017890.5:c.11909G>A (VPS13B) MANE Plus Clinical | NP_060360.3:p.Ser3970Asn | |
| NM_152564.5:c.11834G>A (VPS13B) MANE Select | NP_689777.3:p.Ser3945Asn |