Linked Data
ClinVar Variation Id:
532741
dbSNP Id:
rs752824265
ExAC:
3:128532192 A / G
gnomAD v2:
3-128532192-A-G
gnomAD v3:
3-128813349-A-G
gnomAD v4:
3-128813349-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.128813349A>G , CM000665.2:g.128813349A>G | GRCh38 |
| NC_000003.11:g.128532192A>G , CM000665.1:g.128532192A>G | GRCh37 |
| NC_000003.10:g.130014882A>G | NCBI36 |
| NG_008070.1:g.92214A>G , LRG_266:g.92214A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265062.8:c.551A>G MANE Select | ENSP00000265062.3:p.Asn184Ser | |
| ENST00000490093.6:c.*93A>G | ENSP00000418955.2:n.*93A>G | |
| ENST00000493186.6:c.224A>G | ENSP00000417189.1:p.Asn75Ser | |
| ENST00000674589.1:c.551A>G | ENSP00000502088.1:p.Asn184Ser | |
| ENST00000674593.1:n.549A>G | ||
| ENST00000674748.1:c.479A>G | ENSP00000502224.1:p.Asn160Ser | |
| ENST00000675342.1:c.551A>G | ENSP00000502486.1:p.Asn184Ser | |
| ENST00000675497.1:c.551A>G | ENSP00000502000.1:p.Asn184Ser | |
| ENST00000675712.1:n.1735A>G | ||
| ENST00000675864.1:c.528+5678A>G | ENSP00000502566.1:n.528+5678A>G | |
| ENST00000676147.1:c.631A>G | ||
| ENST00000676214.1:c.551A>G | ENSP00000501618.1:p.Asn184Ser | |
| ENST00000676425.1:c.*27A>G | ENSP00000502084.1:n.*27A>G | |
| ENST00000265062.7:c.551A>G | ENSP00000265062.3:p.Asn184Ser | |
| ENST00000482525.5:c.410A>G | ENSP00000417668.1:p.Asn137Ser | |
| ENST00000483906.5:c.332A>G | ENSP00000417155.1:p.Asn111Ser | |
| ENST00000485280.1:c.203A>G | ENSP00000418283.1:p.Asn68Ser | |
| ENST00000493186.5:c.224A>G | ENSP00000417189.1:p.Asn75Ser | |
| NM_004637.5:c.551A>G , LRG_266t1:c.551A>G | NP_004628.4:p.Asn184Ser | |
| XM_024453745.1:c.551A>G | XP_024309513.1:p.Asn184Ser | |
| XR_002959582.1:n.1735A>G | ||
| XR_002959583.1:n.1663A>G | ||
| NM_004637.6:c.551A>G MANE Select | NP_004628.4:p.Asn184Ser |