Linked Data
ClinVar Variation Id:
1687153
ClinVar RCV Id:
RCV002250835
dbSNP Id:
rs776620952
gnomAD v4:
16-681548-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.681548C>T , CM000678.2:g.681548C>T | GRCh38 |
| NC_000016.9:g.731548C>T , CM000678.1:g.731548C>T | GRCh37 |
| NC_000016.8:g.671549C>T | NCBI36 |
| NG_034141.1:g.6438C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219548.9:c.469C>T (STUB1) MANE Select | ENSP00000219548.4:p.Gln157Ter | |
| ENST00000219548.8:c.469C>T (STUB1) | ENSP00000219548.4:p.Gln157Ter | |
| ENST00000563505.5:n.565C>T (STUB1) | ||
| ENST00000564316.1:c.68C>T (STUB1) | ||
| ENST00000564370.5:c.253C>T (STUB1) | ENSP00000456875.1:p.Gln85Ter | |
| ENST00000565677.5:c.253C>T (STUB1) | ENSP00000457228.1:p.Gln85Ter | |
| ENST00000566181.2:n.238C>T (STUB1) | ||
| ENST00000566408.5:c.186C>T (STUB1) | ||
| ENST00000567173.5:c.412C>T (STUB1) | ENSP00000456591.1:p.Gln138Ter | |
| ENST00000569248.5:n.1043C>T (STUB1) | ||
| ENST00000620831.4:c.-50+38245C>T (MSLN) | ENSP00000482893.1:n.-50+38245C>T | |
| NM_001293197.1:c.253C>T (STUB1) | NP_001280126.1:p.Gln85Ter | |
| NM_005861.3:c.469C>T (STUB1) | NP_005852.2:p.Gln157Ter | |
| NM_005861.4:c.469C>T (STUB1) MANE Select | NP_005852.2:p.Gln157Ter | |
| NM_001293197.2:c.253C>T (STUB1) | NP_001280126.1:p.Gln85Ter |