Linked Data
ClinVar Variation Id:
162097
dbSNP Id:
rs690016544
ExAC:
16:731186 A / G
gnomAD v4:
16-681186-A-G
PubMed:
PMID:25258038
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.681186A>G , CM000678.2:g.681186A>G | GRCh38 |
| NC_000016.9:g.731186A>G , CM000678.1:g.731186A>G | GRCh37 |
| NC_000016.8:g.671187A>G | NCBI36 |
| NG_034141.1:g.6076A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219548.9:c.194A>G (STUB1) MANE Select | ENSP00000219548.4:p.Asn65Ser | |
| ENST00000219548.8:c.194A>G (STUB1) | ENSP00000219548.4:p.Asn65Ser | |
| ENST00000563505.5:n.290A>G (STUB1) | ||
| ENST00000564370.5:c.-23A>G (STUB1) | ENSP00000456875.1:n.-23A>G | |
| ENST00000565677.5:c.-23A>G (STUB1) | ENSP00000457228.1:n.-23A>G | |
| ENST00000567173.5:c.160-23A>G (STUB1) | ENSP00000456591.1:n.160-23A>G | |
| ENST00000567790.1:n.247-23A>G (STUB1) | ||
| ENST00000569248.5:n.768A>G (STUB1) | ||
| ENST00000620831.4:c.-50+37883A>G (MSLN) | ENSP00000482893.1:n.-50+37883A>G | |
| NM_001293197.1:c.-23A>G (STUB1) | NP_001280126.1:n.-23A>G | |
| NM_005861.3:c.194A>G (STUB1) | NP_005852.2:p.Asn65Ser | |
| NM_005861.4:c.194A>G (STUB1) MANE Select | NP_005852.2:p.Asn65Ser | |
| NM_001293197.2:c.-23A>G (STUB1) | NP_001280126.1:n.-23A>G |