Linked Data
ClinVar Variation Id:
1362266
ClinVar RCV Id:
RCV001932200
dbSNP Id:
rs562746756
gnomAD v3:
1-56876092-A-G
gnomAD v4:
1-56876092-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.56876092A>G , CM000663.2:g.56876092A>G | GRCh38 |
| NC_000001.10:g.57341765A>G , CM000663.1:g.57341765A>G | GRCh37 |
| NC_000001.9:g.57114353A>G | NCBI36 |
| NG_012049.1:g.26323A>G , LRG_139:g.26323A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695676.1:n.481A>G | ||
| ENST00000695677.1:c.347A>G | ENSP00000512097.1:p.Asn116Ser | |
| ENST00000695678.1:c.347A>G | ENSP00000512098.1:p.Asn116Ser | |
| ENST00000695679.1:c.347A>G | ENSP00000512099.1:p.Asn116Ser | |
| ENST00000695680.1:n.453A>G | ||
| ENST00000695681.1:c.347A>G | ENSP00000512100.1:p.Asn116Ser | |
| ENST00000695682.1:n.441A>G | ||
| ENST00000695683.1:n.378A>G | ||
| ENST00000695684.1:n.245A>G | ||
| ENST00000695685.1:n.298A>G | ||
| ENST00000695723.1:c.347A>G | ENSP00000512121.1:p.Asn116Ser | |
| ENST00000361249.4:c.347A>G MANE Select | ENSP00000354458.3:p.Asn116Ser | |
| ENST00000361249.3:c.347A>G | ENSP00000354458.3:p.Asn116Ser | |
| NM_000562.2:c.347A>G , LRG_139t1:c.347A>G | NP_000553.1:p.Asn116Ser | |
| XM_011542079.1:c.347A>G | XP_011540381.1:p.Asn116Ser | |
| XM_011542079.2:c.347A>G | XP_011540381.1:p.Asn116Ser | |
| XM_017002234.1:c.347A>G | XP_016857723.1:p.Asn116Ser | |
| NM_000562.3:c.347A>G MANE Select | NP_000553.1:p.Asn116Ser |