Linked Data
dbSNP Id:
rs373392008
ExAC:
16:731444 G / A
gnomAD v2:
16-731444-G-A
gnomAD v3:
16-681444-G-A
gnomAD v4:
16-681444-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.681444G>A , CM000678.2:g.681444G>A | GRCh38 |
| NC_000016.9:g.731444G>A , CM000678.1:g.731444G>A | GRCh37 |
| NC_000016.8:g.671445G>A | NCBI36 |
| NG_034141.1:g.6334G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219548.9:c.365G>A (STUB1) MANE Select | ENSP00000219548.4:p.Ser122Asn | |
| ENST00000219548.8:c.365G>A (STUB1) | ENSP00000219548.4:p.Ser122Asn | |
| ENST00000563505.5:n.461G>A (STUB1) | ||
| ENST00000564370.5:c.149G>A (STUB1) | ENSP00000456875.1:p.Ser50Asn | |
| ENST00000565677.5:c.149G>A (STUB1) | ENSP00000457228.1:p.Ser50Asn | |
| ENST00000566181.2:n.134G>A (STUB1) | ||
| ENST00000566408.5:c.82G>A (STUB1) | ||
| ENST00000567173.5:c.308G>A (STUB1) | ENSP00000456591.1:p.Ser103Asn | |
| ENST00000569248.5:n.939G>A (STUB1) | ||
| ENST00000620831.4:c.-50+38141G>A (MSLN) | ENSP00000482893.1:n.-50+38141G>A | |
| NM_001293197.1:c.149G>A (STUB1) | NP_001280126.1:p.Ser50Asn | |
| NM_005861.3:c.365G>A (STUB1) | NP_005852.2:p.Ser122Asn | |
| NM_005861.4:c.365G>A (STUB1) MANE Select | NP_005852.2:p.Ser122Asn | |
| NM_001293197.2:c.149G>A (STUB1) | NP_001280126.1:p.Ser50Asn |