Linked Data
dbSNP Id:
rs759321996
gnomAD v2:
16-731457-G-C
gnomAD v3:
16-681457-G-C
gnomAD v4:
16-681457-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.681457G>C , CM000678.2:g.681457G>C | GRCh38 |
| NC_000016.9:g.731457G>C , CM000678.1:g.731457G>C | GRCh37 |
| NC_000016.8:g.671458G>C | NCBI36 |
| NG_034141.1:g.6347G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219548.9:c.378G>C (STUB1) MANE Select | ENSP00000219548.4:p.Glu126Asp | |
| ENST00000219548.8:c.378G>C (STUB1) | ENSP00000219548.4:p.Glu126Asp | |
| ENST00000563505.5:n.474G>C (STUB1) | ||
| ENST00000564370.5:c.162G>C (STUB1) | ENSP00000456875.1:p.Glu54Asp | |
| ENST00000565677.5:c.162G>C (STUB1) | ENSP00000457228.1:p.Glu54Asp | |
| ENST00000566181.2:n.147G>C (STUB1) | ||
| ENST00000566408.5:c.95G>C (STUB1) | ||
| ENST00000567173.5:c.321G>C (STUB1) | ENSP00000456591.1:p.Glu107Asp | |
| ENST00000569248.5:n.952G>C (STUB1) | ||
| ENST00000620831.4:c.-50+38154G>C (MSLN) | ENSP00000482893.1:n.-50+38154G>C | |
| NM_001293197.1:c.162G>C (STUB1) | NP_001280126.1:p.Glu54Asp | |
| NM_005861.3:c.378G>C (STUB1) | NP_005852.2:p.Glu126Asp | |
| NM_005861.4:c.378G>C (STUB1) MANE Select | NP_005852.2:p.Glu126Asp | |
| NM_001293197.2:c.162G>C (STUB1) | NP_001280126.1:p.Glu54Asp |