Linked Data
dbSNP Id:
rs761294653
ExAC:
16:731429 G / T
gnomAD v2:
16-731429-G-T
gnomAD v3:
16-681429-G-T
gnomAD v4:
16-681429-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.681429G>T , CM000678.2:g.681429G>T | GRCh38 |
| NC_000016.9:g.731429G>T , CM000678.1:g.731429G>T | GRCh37 |
| NC_000016.8:g.671430G>T | NCBI36 |
| NG_034141.1:g.6319G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219548.9:c.359-9G>T (STUB1) MANE Select | ENSP00000219548.4:n.359-9G>T | |
| ENST00000219548.8:c.359-9G>T (STUB1) | ENSP00000219548.4:n.359-9G>T | |
| ENST00000563505.5:n.455-9G>T (STUB1) | ||
| ENST00000564370.5:c.143-9G>T (STUB1) | ENSP00000456875.1:n.143-9G>T | |
| ENST00000565677.5:c.143-9G>T (STUB1) | ENSP00000457228.1:n.143-9G>T | |
| ENST00000566181.2:n.128-9G>T (STUB1) | ||
| ENST00000566408.5:c.76-9G>T (STUB1) | ||
| ENST00000567173.5:c.302-9G>T (STUB1) | ENSP00000456591.1:n.302-9G>T | |
| ENST00000569248.5:n.933-9G>T (STUB1) | ||
| ENST00000620831.4:c.-50+38126G>T (MSLN) | ENSP00000482893.1:n.-50+38126G>T | |
| NM_001293197.1:c.143-9G>T (STUB1) | NP_001280126.1:n.143-9G>T | |
| NM_005861.3:c.359-9G>T (STUB1) | NP_005852.2:n.359-9G>T | |
| NM_005861.4:c.359-9G>T (STUB1) MANE Select | NP_005852.2:n.359-9G>T | |
| NM_001293197.2:c.143-9G>T (STUB1) | NP_001280126.1:n.143-9G>T |