Linked Data
ClinVar Variation Id:
1057483
dbSNP Id:
rs776542291
ExAC:
15:40512920 T / C
gnomAD v2:
15-40512920-T-C
gnomAD v3:
15-40220719-T-C
gnomAD v4:
15-40220719-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40220719T>C , CM000677.2:g.40220719T>C | GRCh38 |
| NC_000015.9:g.40512920T>C , CM000677.1:g.40512920T>C | GRCh37 |
| NC_000015.8:g.38300212T>C | NCBI36 |
| NG_016338.1:g.64711T>C , LRG_489:g.64711T>C | |
| NG_033169.1:g.8292T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287598.11:c.3113T>C (BUB1B) MANE Select | ENSP00000287598.7:p.Val1038Ala | |
| ENST00000453867.7:c.-118+3052T>C (PAK6) | ENSP00000401153.3:n.-118+3052T>C | |
| ENST00000558658.6:c.-201+3052T>C (PAK6) | ENSP00000456785.2:n.-201+3052T>C | |
| ENST00000287598.10:c.3113T>C (BUB1B) | ENSP00000287598.6:p.Val1038Ala | |
| ENST00000412359.7:c.3155T>C (BUB1B) | ENSP00000398470.3:p.Val1052Ala | |
| ENST00000441369.6:c.-201+3052T>C (BUB1B-PAK6) | ENSP00000406873.1:n.-201+3052T>C | |
| ENST00000453867.6:c.83+3052T>C (BUB1B-PAK6) | ENSP00000401153.2:n.83+3052T>C | |
| ENST00000558658.5:c.81+3052T>C (BUB1B-PAK6) | ENSP00000456785.1:n.81+3052T>C | |
| ENST00000559435.1:c.217+2T>C (BUB1B-PAK6) | ||
| NM_001128628.2:c.-201+3052T>C (PAK6) | NP_001122100.1:n.-201+3052T>C | |
| NM_001128629.2:c.-118+3052T>C (PAK6) | NP_001122101.1:n.-118+3052T>C | |
| NM_001211.5:c.3113T>C , LRG_489t1:c.3113T>C (BUB1B) | NP_001202.4:p.Val1038Ala | |
| XR_001751506.1:n.217+18766A>G | ||
| NM_001128629.3:c.-118+3052T>C (BUB1B-PAK6) | NP_001122101.1:n.-118+3052T>C | |
| NM_001211.6:c.3113T>C (BUB1B) MANE Select | NP_001202.5:p.Val1038Ala | |
| NM_001128628.3:c.-201+3052T>C (BUB1B-PAK6) | NP_001122100.1:n.-201+3052T>C |