Linked Data
ClinVar Variation Id:
2132981
ClinVar RCV Id:
RCV003056176
MyVariant Identifiers:
chr3:g.53835348T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.53801321T>C , CM000665.2:g.53801321T>C | GRCh38 |
| NC_000003.11:g.53835348T>C , CM000665.1:g.53835348T>C | GRCh37 |
| NC_000003.10:g.53810388T>C | NCBI36 |
| NG_032999.1:g.311273T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000481478.2:c.5364T>C | ENSP00000418014.2:p.His1788= | |
| ENST00000636633.2:n.2303T>C | ||
| ENST00000636999.2:n.739T>C | ||
| ENST00000288139.11:c.5364T>C MANE Plus Clinical | ENSP00000288139.3:p.His1788= | |
| ENST00000350061.11:c.5304T>C MANE Select | ENSP00000288133.5:p.His1768= | |
| ENST00000422281.7:c.5259T>C | ENSP00000409174.2:p.His1753= | |
| ENST00000636448.1:c.1425T>C | ||
| ENST00000636570.1:c.5259T>C | ENSP00000490183.1:p.His1753= | |
| ENST00000636629.1:n.660T>C | ||
| ENST00000636633.1:n.2303T>C | ||
| ENST00000636999.1:n.731T>C | ||
| ENST00000637424.1:c.5331T>C | ENSP00000489769.1:p.His1777= | |
| ENST00000637844.1:n.58T>C | ||
| ENST00000288139.8:c.5364T>C | ENSP00000288139.3:p.His1788= | |
| ENST00000350061.9:c.5304T>C | ENSP00000288133.5:p.His1768= | |
| ENST00000422281.6:c.5259T>C | ENSP00000409174.2:p.His1753= | |
| ENST00000481478.1:c.4383T>C | ENSP00000418014.1:p.His1461= | |
| NM_000720.3:c.5364T>C | NP_000711.1:p.His1788= | |
| NM_001128839.2:c.5259T>C | NP_001122311.1:p.His1753= | |
| NM_001128840.2:c.5304T>C | NP_001122312.1:p.His1768= | |
| XM_005265448.2:c.5259T>C | XP_005265505.1:p.His1753= | |
| XM_011534094.1:c.5559T>C | XP_011532396.1:p.His1853= | |
| XM_011534095.1:c.5448T>C | XP_011532397.1:p.His1816= | |
| XM_011534096.1:c.5370T>C | XP_011532398.1:p.His1790= | |
| XM_011534097.1:c.5022T>C | XP_011532399.1:p.His1674= | |
| XM_011534098.1:c.5022T>C | XP_011532400.1:p.His1674= | |
| XM_011534099.1:c.4647T>C | XP_011532401.1:p.His1549= | |
| XM_011534100.1:c.5454T>C | XP_011532402.1:p.His1818= | |
| XM_005265448.3:c.5259T>C | XP_005265505.1:p.His1753= | |
| XM_011534094.2:c.5559T>C | XP_011532396.1:p.His1853= | |
| XM_011534096.2:c.5370T>C | XP_011532398.1:p.His1790= | |
| XM_011534097.2:c.5022T>C | XP_011532399.1:p.His1674= | |
| XM_011534099.2:c.4647T>C | XP_011532401.1:p.His1549= | |
| XM_011534100.2:c.5454T>C | XP_011532402.1:p.His1818= | |
| XM_017007137.1:c.5559T>C | XP_016862626.1:p.His1853= | |
| XM_017007138.1:c.5556T>C | XP_016862627.1:p.His1852= | |
| XM_017007139.1:c.5559T>C | XP_016862628.1:p.His1853= | |
| XM_017007140.1:c.5499T>C | XP_016862629.1:p.His1833= | |
| XM_017007141.1:c.5499T>C | XP_016862630.1:p.His1833= | |
| XM_017007142.1:c.5475T>C | XP_016862631.1:p.His1825= | |
| XM_017007143.1:c.5475T>C | XP_016862632.1:p.His1825= | |
| XM_017007144.1:c.5475T>C | XP_016862633.1:p.His1825= | |
| XM_017007145.1:c.5430T>C | XP_016862634.1:p.His1810= | |
| NM_001128840.3:c.5304T>C MANE Select | NP_001122312.1:p.His1768= | |
| NM_000720.4:c.5364T>C MANE Plus Clinical | NP_000711.1:p.His1788= | |
| NM_001128839.3:c.5259T>C | NP_001122311.1:p.His1753= |