Linked Data
ClinVar Variation Id:
1798601
ClinVar RCV Id:
RCV002435572
dbSNP Id:
rs2140914725
gnomAD v4:
15-40220605-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40220605T>G , CM000677.2:g.40220605T>G | GRCh38 |
| NC_000015.9:g.40512806T>G , CM000677.1:g.40512806T>G | GRCh37 |
| NC_000015.8:g.38300098T>G | NCBI36 |
| NG_016338.1:g.64597T>G , LRG_489:g.64597T>G | |
| NG_033169.1:g.8178T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287598.11:c.2999T>G (BUB1B) MANE Select | ENSP00000287598.7:p.Ile1000Ser | |
| ENST00000453867.7:c.-118+2938T>G (PAK6) | ENSP00000401153.3:n.-118+2938T>G | |
| ENST00000558658.6:c.-201+2938T>G (PAK6) | ENSP00000456785.2:n.-201+2938T>G | |
| ENST00000287598.10:c.2999T>G (BUB1B) | ENSP00000287598.6:p.Ile1000Ser | |
| ENST00000412359.7:c.3041T>G (BUB1B) | ENSP00000398470.3:p.Ile1014Ser | |
| ENST00000441369.6:c.-201+2938T>G (BUB1B-PAK6) | ENSP00000406873.1:n.-201+2938T>G | |
| ENST00000453867.6:c.83+2938T>G (BUB1B-PAK6) | ENSP00000401153.2:n.83+2938T>G | |
| ENST00000558151.1:n.400T>G (BUB1B) | ||
| ENST00000558658.5:c.81+2938T>G (BUB1B-PAK6) | ENSP00000456785.1:n.81+2938T>G | |
| ENST00000559435.1:c.105T>G (BUB1B-PAK6) | ||
| NM_001128628.2:c.-201+2938T>G (PAK6) | NP_001122100.1:n.-201+2938T>G | |
| NM_001128629.2:c.-118+2938T>G (PAK6) | NP_001122101.1:n.-118+2938T>G | |
| NM_001211.5:c.2999T>G , LRG_489t1:c.2999T>G (BUB1B) | NP_001202.4:p.Ile1000Ser | |
| XR_001751506.1:n.217+18880A>C | ||
| NM_001128629.3:c.-118+2938T>G (BUB1B-PAK6) | NP_001122101.1:n.-118+2938T>G | |
| NM_001211.6:c.2999T>G (BUB1B) MANE Select | NP_001202.5:p.Ile1000Ser | |
| NM_001128628.3:c.-201+2938T>G (BUB1B-PAK6) | NP_001122100.1:n.-201+2938T>G |