Linked Data
ClinVar Variation Id:
2044735
ClinVar RCV Id:
RCV002903908
dbSNP Id:
rs11861355
ExAC:
16:731517 C / T
gnomAD v2:
16-731517-C-T
gnomAD v3:
16-681517-C-T
gnomAD v4:
16-681517-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.681517C>T , CM000678.2:g.681517C>T | GRCh38 |
| NC_000016.9:g.731517C>T , CM000678.1:g.731517C>T | GRCh37 |
| NC_000016.8:g.671518C>T | NCBI36 |
| NG_034141.1:g.6407C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219548.9:c.438C>T (STUB1) MANE Select | ENSP00000219548.4:p.Arg146= | |
| ENST00000219548.8:c.438C>T (STUB1) | ENSP00000219548.4:p.Arg146= | |
| ENST00000563505.5:n.534C>T (STUB1) | ||
| ENST00000564316.1:c.37C>T (STUB1) | ||
| ENST00000564370.5:c.222C>T (STUB1) | ENSP00000456875.1:p.Arg74= | |
| ENST00000565677.5:c.222C>T (STUB1) | ENSP00000457228.1:p.Arg74= | |
| ENST00000566181.2:n.207C>T (STUB1) | ||
| ENST00000566408.5:c.155C>T (STUB1) | ||
| ENST00000567173.5:c.381C>T (STUB1) | ENSP00000456591.1:p.Arg127= | |
| ENST00000569248.5:n.1012C>T (STUB1) | ||
| ENST00000620831.4:c.-50+38214C>T (MSLN) | ENSP00000482893.1:n.-50+38214C>T | |
| NM_001293197.1:c.222C>T (STUB1) | NP_001280126.1:p.Arg74= | |
| NM_005861.3:c.438C>T (STUB1) | NP_005852.2:p.Arg146= | |
| NM_005861.4:c.438C>T (STUB1) MANE Select | NP_005852.2:p.Arg146= | |
| NM_001293197.2:c.222C>T (STUB1) | NP_001280126.1:p.Arg74= |