Linked Data
ClinVar Variation Id:
224924
dbSNP Id:
rs1802286
ExAC:
15:40510662 C / T
gnomAD v2:
15-40510662-C-T
gnomAD v3:
15-40218461-C-T
gnomAD v4:
15-40218461-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40218461C>T , CM000677.2:g.40218461C>T | GRCh38 |
| NC_000015.9:g.40510662C>T , CM000677.1:g.40510662C>T | GRCh37 |
| NC_000015.8:g.38297954C>T | NCBI36 |
| NG_016338.1:g.62453C>T , LRG_489:g.62453C>T | |
| NG_033169.1:g.6034C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287598.11:c.2856C>T (BUB1B) MANE Select | ENSP00000287598.7:p.Asp952= | |
| ENST00000453867.7:c.-118+794C>T (PAK6) | ENSP00000401153.3:n.-118+794C>T | |
| ENST00000558658.6:c.-201+794C>T (PAK6) | ENSP00000456785.2:n.-201+794C>T | |
| ENST00000287598.10:c.2856C>T (BUB1B) | ENSP00000287598.6:p.Asp952= | |
| ENST00000412359.7:c.2898C>T (BUB1B) | ENSP00000398470.3:p.Asp966= | |
| ENST00000441369.6:c.-201+794C>T (BUB1B-PAK6) | ENSP00000406873.1:n.-201+794C>T | |
| ENST00000453867.6:c.83+794C>T (BUB1B-PAK6) | ENSP00000401153.2:n.83+794C>T | |
| ENST00000558151.1:n.257C>T (BUB1B) | ||
| ENST00000558658.5:c.81+794C>T (BUB1B-PAK6) | ENSP00000456785.1:n.81+794C>T | |
| NM_001128628.2:c.-201+794C>T (PAK6) | NP_001122100.1:n.-201+794C>T | |
| NM_001128629.2:c.-118+794C>T (PAK6) | NP_001122101.1:n.-118+794C>T | |
| NM_001211.5:c.2856C>T , LRG_489t1:c.2856C>T (BUB1B) | NP_001202.4:p.Asp952= | |
| XR_001751506.1:n.217+21024G>A | ||
| NM_001128629.3:c.-118+794C>T (BUB1B-PAK6) | NP_001122101.1:n.-118+794C>T | |
| NM_001211.6:c.2856C>T (BUB1B) MANE Select | NP_001202.5:p.Asp952= | |
| NM_001128628.3:c.-201+794C>T (BUB1B-PAK6) | NP_001122100.1:n.-201+794C>T |