Linked Data
dbSNP Id:
rs771009290
ExAC:
16:731544 C / A
gnomAD v2:
16-731544-C-A
gnomAD v3:
16-681544-C-A
gnomAD v4:
16-681544-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.681544C>A , CM000678.2:g.681544C>A | GRCh38 |
| NC_000016.9:g.731544C>A , CM000678.1:g.731544C>A | GRCh37 |
| NC_000016.8:g.671545C>A | NCBI36 |
| NG_034141.1:g.6434C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219548.9:c.465C>A (STUB1) MANE Select | ENSP00000219548.4:p.Ile155= | |
| ENST00000219548.8:c.465C>A (STUB1) | ENSP00000219548.4:p.Ile155= | |
| ENST00000563505.5:n.561C>A (STUB1) | ||
| ENST00000564316.1:c.64C>A (STUB1) | ||
| ENST00000564370.5:c.249C>A (STUB1) | ENSP00000456875.1:p.Ile83= | |
| ENST00000565677.5:c.249C>A (STUB1) | ENSP00000457228.1:p.Ile83= | |
| ENST00000566181.2:n.234C>A (STUB1) | ||
| ENST00000566408.5:c.182C>A (STUB1) | ||
| ENST00000567173.5:c.408C>A (STUB1) | ENSP00000456591.1:p.Ile136= | |
| ENST00000569248.5:n.1039C>A (STUB1) | ||
| ENST00000620831.4:c.-50+38241C>A (MSLN) | ENSP00000482893.1:n.-50+38241C>A | |
| NM_001293197.1:c.249C>A (STUB1) | NP_001280126.1:p.Ile83= | |
| NM_005861.3:c.465C>A (STUB1) | NP_005852.2:p.Ile155= | |
| NM_005861.4:c.465C>A (STUB1) MANE Select | NP_005852.2:p.Ile155= | |
| NM_001293197.2:c.249C>A (STUB1) | NP_001280126.1:p.Ile83= |