Linked Data
ClinVar Variation Id:
526221
dbSNP Id:
rs138889073
ExAC:
11:26484611 A / G
gnomAD v2:
11-26484611-A-G
gnomAD v3:
11-26463064-A-G
gnomAD v4:
11-26463064-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.26463064A>G , CM000673.2:g.26463064A>G | GRCh38 |
| NC_000011.9:g.26484611A>G , CM000673.1:g.26484611A>G | GRCh37 |
| NC_000011.8:g.26441187A>G | NCBI36 |
| NG_042856.1:g.278942A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256737.8:c.348A>G MANE Select | ENSP00000256737.3:p.Ser116= | |
| ENST00000672621.1:c.531A>G | ENSP00000500506.1:p.Ser177= | |
| ENST00000256737.7:c.348A>G | ENSP00000256737.3:p.Ser116= | |
| ENST00000525139.5:c.300A>G | ENSP00000432576.1:p.Ser100= | |
| ENST00000531646.1:c.348A>G | ENSP00000435275.1:p.Ser116= | |
| NM_001313726.1:c.531A>G | NP_001300655.1:p.Ser177= | |
| NM_031418.2:c.348A>G | NP_113606.2:p.Ser116= | |
| NM_031418.3:c.348A>G | NP_113606.2:p.Ser116= | |
| NM_031418.4:c.348A>G MANE Select | NP_113606.2:p.Ser116= | |
| NM_001313726.2:c.531A>G | NP_001300655.1:p.Ser177= |