Linked Data
ClinVar Variation Id:
256239
dbSNP Id:
rs145194293
ExAC:
3:49457761 C / T
gnomAD v2:
3-49457761-C-T
gnomAD v3:
3-49420328-C-T
gnomAD v4:
3-49420328-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49420328C>T , CM000665.2:g.49420328C>T | GRCh38 |
| NC_000003.11:g.49457761C>T , CM000665.1:g.49457761C>T | GRCh37 |
| NC_000003.10:g.49432765C>T | NCBI36 |
| NG_015986.1:g.7351G>A , LRG_537:g.7351G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000273588.9:c.354G>A MANE Select | ENSP00000273588.3:p.Leu118= | |
| ENST00000395338.7:c.354G>A | ENSP00000378747.2:p.Leu118= | |
| ENST00000399379.7:c.156G>A | ENSP00000399943.2:p.Leu52= | |
| ENST00000427987.6:c.210G>A | ENSP00000403821.2:p.Leu70= | |
| ENST00000430521.2:c.*156G>A | ENSP00000388068.2:n.*156G>A | |
| ENST00000462048.2:c.63G>A | ENSP00000490465.1:p.Leu21= | |
| ENST00000465925.6:n.1522G>A | ||
| ENST00000473163.2:n.2136G>A | ||
| ENST00000476127.6:n.231G>A | ||
| ENST00000476226.6:n.353G>A | ||
| ENST00000476828.2:n.327G>A | ||
| ENST00000478594.6:n.359G>A | ||
| ENST00000480957.6:n.1521G>A | ||
| ENST00000485108.6:n.484G>A | ||
| ENST00000487589.6:n.267G>A | ||
| ENST00000491800.3:n.2145G>A | ||
| ENST00000493046.6:n.2131G>A | ||
| ENST00000538581.6:c.210G>A | ENSP00000443200.2:p.Leu70= | |
| ENST00000635772.1:n.358G>A | ||
| ENST00000635808.1:c.273G>A | ENSP00000489620.1:p.Leu91= | |
| ENST00000635889.1:n.363G>A | ||
| ENST00000635936.1:n.346G>A | ||
| ENST00000636023.1:c.354G>A | ENSP00000489969.1:p.Leu118= | |
| ENST00000636070.1:c.*134G>A | ENSP00000490160.1:n.*134G>A | |
| ENST00000636148.1:n.1573G>A | ||
| ENST00000636166.1:c.591G>A | ENSP00000490106.1:p.Leu197= | |
| ENST00000636199.1:c.259-1177G>A | ENSP00000490871.1:n.259-1177G>A | |
| ENST00000636204.1:n.1636G>A | ||
| ENST00000636461.1:c.3466G>A | ||
| ENST00000636522.1:c.186G>A | ENSP00000489758.1:p.Leu62= | |
| ENST00000636587.1:n.586G>A | ||
| ENST00000636597.1:c.354G>A | ENSP00000490251.1:p.Leu118= | |
| ENST00000636725.1:n.344G>A | ||
| ENST00000636803.1:n.344G>A | ||
| ENST00000636865.1:c.210G>A | ENSP00000490601.1:p.Leu70= | |
| ENST00000636871.1:n.297G>A | ||
| ENST00000636978.1:n.358G>A | ||
| ENST00000636991.1:n.377G>A | ||
| ENST00000637059.1:c.70-540G>A | ENSP00000490153.1:n.70-540G>A | |
| ENST00000637088.1:n.4440G>A | ||
| ENST00000637114.1:n.346G>A | ||
| ENST00000637268.1:n.359G>A | ||
| ENST00000637291.1:n.362G>A | ||
| ENST00000637442.1:n.1849G>A | ||
| ENST00000637455.1:c.165G>A | ENSP00000489628.1:p.Leu55= | |
| ENST00000637457.1:n.381G>A | ||
| ENST00000637682.1:c.354G>A | ENSP00000489856.1:p.Leu118= | |
| ENST00000637684.1:n.456G>A | ||
| ENST00000637821.1:c.*134G>A | ENSP00000490482.1:n.*134G>A | |
| ENST00000637914.1:n.1522G>A | ||
| ENST00000637982.1:n.346G>A | ||
| ENST00000637994.1:n.364G>A | ||
| ENST00000638014.1:c.3135G>A | ||
| ENST00000638063.1:c.273G>A | ENSP00000489760.1:p.Leu91= | |
| ENST00000638079.1:c.*870G>A | ENSP00000490120.1:n.*870G>A | |
| ENST00000638092.1:n.344G>A | ||
| ENST00000638115.1:c.*2115G>A | ENSP00000490296.1:n.*2115G>A | |
| ENST00000273588.7:c.354G>A | ENSP00000273588.3:p.Leu118= | |
| ENST00000395338.6:c.354G>A | ENSP00000378747.2:p.Leu118= | |
| ENST00000399379.6:c.*134G>A | ENSP00000399943.1:n.*134G>A | |
| ENST00000427987.5:c.346G>A | ||
| ENST00000430521.1:c.186G>A | ENSP00000388068.1:p.Leu62= | |
| ENST00000458307.6:c.340-540G>A | ENSP00000415619.2:n.340-540G>A | |
| ENST00000461210.1:n.536G>A | ||
| ENST00000462048.1:n.411G>A | ||
| ENST00000465925.5:n.818G>A | ||
| ENST00000476226.5:n.419G>A | ||
| ENST00000476828.1:n.327G>A | ||
| ENST00000478594.5:n.348G>A | ||
| ENST00000480957.5:n.362G>A | ||
| ENST00000485108.5:n.348G>A | ||
| ENST00000487589.5:n.456G>A | ||
| ENST00000493046.5:n.255G>A | ||
| ENST00000495436.5:n.430-540G>A | ||
| ENST00000538581.5:c.186G>A | ENSP00000443200.1:p.Leu62= | |
| NM_000481.3:c.354G>A , LRG_537t1:c.354G>A | NP_000472.2:p.Leu118= | |
| NM_001164710.1:c.340-540G>A | NP_001158182.1:n.340-540G>A | |
| NM_001164711.1:c.186G>A | NP_001158183.1:p.Leu62= | |
| NM_001164712.1:c.354G>A | NP_001158184.1:p.Leu118= | |
| NR_028435.1:n.568G>A | ||
| NM_000481.4:c.354G>A MANE Select | NP_000472.2:p.Leu118= | |
| NM_001164710.2:c.340-540G>A | NP_001158182.1:n.340-540G>A | |
| NM_001164711.2:c.186G>A | NP_001158183.1:p.Leu62= | |
| NM_001164712.2:c.354G>A | NP_001158184.1:p.Leu118= | |
| NR_028435.2:n.363G>A |