Linked Data
ClinVar Variation Id:
261427
dbSNP Id:
rs1362650
ExAC:
3:179137273 A / G
gnomAD v2:
3-179137273-A-G
gnomAD v3:
3-179419485-A-G
gnomAD v4:
3-179419485-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.179419485A>G , CM000665.2:g.179419485A>G | GRCh38 |
| NC_000003.11:g.179137273A>G , CM000665.1:g.179137273A>G | GRCh37 |
| NC_000003.10:g.180619967A>G | NCBI36 |
| NG_033163.1:g.37099T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000232564.8:c.117T>C MANE Select | ENSP00000232564.3:p.Ser39= | |
| ENST00000465153.2:c.117T>C | ENSP00000502010.1:p.Ser39= | |
| ENST00000466899.6:c.117T>C | ENSP00000420066.2:p.Ser39= | |
| ENST00000468623.6:c.78T>C | ENSP00000419693.2:p.Ser26= | |
| ENST00000674713.1:c.9T>C | ENSP00000502144.1:p.Ser3= | |
| ENST00000674862.1:c.117T>C | ENSP00000502628.1:p.Ser39= | |
| ENST00000674927.1:c.117T>C | ENSP00000501774.1:p.Ser39= | |
| ENST00000675901.1:c.117T>C | ENSP00000501992.1:p.Ser39= | |
| ENST00000676128.1:c.117T>C | ENSP00000501882.1:p.Ser39= | |
| ENST00000232564.7:c.117T>C | ENSP00000232564.3:p.Ser39= | |
| ENST00000468623.5:c.117T>C | ENSP00000419693.1:p.Ser39= | |
| ENST00000497513.1:c.117T>C | ENSP00000420606.1:p.Ser39= | |
| NM_021629.3:c.117T>C | NP_067642.1:p.Ser39= | |
| XM_005247692.1:c.117T>C | XP_005247749.1:p.Ser39= | |
| XM_006713721.1:c.117T>C | XP_006713784.1:p.Ser39= | |
| XM_011513061.1:c.117T>C | XP_011511363.1:p.Ser39= | |
| XM_005247692.2:c.117T>C | XP_005247749.1:p.Ser39= | |
| XM_006713721.2:c.117T>C | XP_006713784.1:p.Ser39= | |
| NM_021629.4:c.117T>C MANE Select | NP_067642.1:p.Ser39= |