Linked Data
dbSNP Id:
rs746448484
ExAC:
16:731542 A / G
gnomAD v2:
16-731542-A-G
gnomAD v4:
16-681542-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.681542A>G , CM000678.2:g.681542A>G | GRCh38 |
| NC_000016.9:g.731542A>G , CM000678.1:g.731542A>G | GRCh37 |
| NC_000016.8:g.671543A>G | NCBI36 |
| NG_034141.1:g.6432A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219548.9:c.463A>G (STUB1) MANE Select | ENSP00000219548.4:p.Ile155Val | |
| ENST00000219548.8:c.463A>G (STUB1) | ENSP00000219548.4:p.Ile155Val | |
| ENST00000563505.5:n.559A>G (STUB1) | ||
| ENST00000564316.1:c.62A>G (STUB1) | ||
| ENST00000564370.5:c.247A>G (STUB1) | ENSP00000456875.1:p.Ile83Val | |
| ENST00000565677.5:c.247A>G (STUB1) | ENSP00000457228.1:p.Ile83Val | |
| ENST00000566181.2:n.232A>G (STUB1) | ||
| ENST00000566408.5:c.180A>G (STUB1) | ||
| ENST00000567173.5:c.406A>G (STUB1) | ENSP00000456591.1:p.Ile136Val | |
| ENST00000569248.5:n.1037A>G (STUB1) | ||
| ENST00000620831.4:c.-50+38239A>G (MSLN) | ENSP00000482893.1:n.-50+38239A>G | |
| NM_001293197.1:c.247A>G (STUB1) | NP_001280126.1:p.Ile83Val | |
| NM_005861.3:c.463A>G (STUB1) | NP_005852.2:p.Ile155Val | |
| NM_005861.4:c.463A>G (STUB1) MANE Select | NP_005852.2:p.Ile155Val | |
| NM_001293197.2:c.247A>G (STUB1) | NP_001280126.1:p.Ile83Val |