Linked Data
dbSNP Id:
rs1330157253
gnomAD v2:
16-731362-A-C
gnomAD v3:
16-681362-A-C
gnomAD v4:
16-681362-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.681362A>C , CM000678.2:g.681362A>C | GRCh38 |
| NC_000016.9:g.731362A>C , CM000678.1:g.731362A>C | GRCh37 |
| NC_000016.8:g.671363A>C | NCBI36 |
| NG_034141.1:g.6252A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219548.9:c.358+12A>C (STUB1) MANE Select | ENSP00000219548.4:n.358+12A>C | |
| ENST00000219548.8:c.358+12A>C (STUB1) | ENSP00000219548.4:n.358+12A>C | |
| ENST00000563505.5:n.454+12A>C (STUB1) | ||
| ENST00000564370.5:c.142+12A>C (STUB1) | ENSP00000456875.1:n.142+12A>C | |
| ENST00000565677.5:c.142+12A>C (STUB1) | ENSP00000457228.1:n.142+12A>C | |
| ENST00000566181.2:n.127+12A>C (STUB1) | ||
| ENST00000566408.5:c.75+12A>C (STUB1) | ||
| ENST00000567173.5:c.301+12A>C (STUB1) | ENSP00000456591.1:n.301+12A>C | |
| ENST00000567790.1:n.400A>C (STUB1) | ||
| ENST00000569248.5:n.932+12A>C (STUB1) | ||
| ENST00000620831.4:c.-50+38059A>C (MSLN) | ENSP00000482893.1:n.-50+38059A>C | |
| NM_001293197.1:c.142+12A>C (STUB1) | NP_001280126.1:n.142+12A>C | |
| NM_005861.3:c.358+12A>C (STUB1) | NP_005852.2:n.358+12A>C | |
| NM_005861.4:c.358+12A>C (STUB1) MANE Select | NP_005852.2:n.358+12A>C | |
| NM_001293197.2:c.142+12A>C (STUB1) | NP_001280126.1:n.142+12A>C |