Linked Data
ClinVar Variation Id:
531768
dbSNP Id:
rs570868528
ExAC:
3:49457679 C / T
gnomAD v2:
3-49457679-C-T
gnomAD v3:
3-49420246-C-T
gnomAD v4:
3-49420246-C-T
COSMIC:
COSM6005881
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49420246C>T , CM000665.2:g.49420246C>T | GRCh38 |
| NC_000003.11:g.49457679C>T , CM000665.1:g.49457679C>T | GRCh37 |
| NC_000003.10:g.49432683C>T | NCBI36 |
| NG_015986.1:g.7433G>A , LRG_537:g.7433G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000273588.9:c.436G>A MANE Select | ENSP00000273588.3:p.Ala146Thr | |
| ENST00000395338.7:c.436G>A | ENSP00000378747.2:p.Ala146Thr | |
| ENST00000399379.7:c.238G>A | ENSP00000399943.2:p.Ala80Thr | |
| ENST00000427987.6:c.292G>A | ENSP00000403821.2:p.Ala98Thr | |
| ENST00000430521.2:c.*238G>A | ENSP00000388068.2:n.*238G>A | |
| ENST00000462048.2:c.145G>A | ENSP00000490465.1:p.Ala49Thr | |
| ENST00000465925.6:n.1604G>A | ||
| ENST00000473163.2:n.2218G>A | ||
| ENST00000476127.6:n.313G>A | ||
| ENST00000476226.6:n.435G>A | ||
| ENST00000476828.2:n.409G>A | ||
| ENST00000478594.6:n.441G>A | ||
| ENST00000480957.6:n.1603G>A | ||
| ENST00000485108.6:n.566G>A | ||
| ENST00000487589.6:n.349G>A | ||
| ENST00000491800.3:n.2227G>A | ||
| ENST00000493046.6:n.2213G>A | ||
| ENST00000538581.6:c.292G>A | ENSP00000443200.2:p.Ala98Thr | |
| ENST00000635772.1:n.440G>A | ||
| ENST00000635808.1:c.355G>A | ENSP00000489620.1:p.Ala119Thr | |
| ENST00000635889.1:n.445G>A | ||
| ENST00000635936.1:n.428G>A | ||
| ENST00000636023.1:c.436G>A | ENSP00000489969.1:p.Ala146Thr | |
| ENST00000636070.1:c.*216G>A | ENSP00000490160.1:n.*216G>A | |
| ENST00000636148.1:n.1655G>A | ||
| ENST00000636166.1:c.673G>A | ENSP00000490106.1:p.Ala225Thr | |
| ENST00000636199.1:c.259-1095G>A | ENSP00000490871.1:n.259-1095G>A | |
| ENST00000636204.1:n.1718G>A | ||
| ENST00000636461.1:c.3548G>A | ||
| ENST00000636522.1:c.268G>A | ENSP00000489758.1:p.Ala90Thr | |
| ENST00000636587.1:n.668G>A | ||
| ENST00000636597.1:c.436G>A | ENSP00000490251.1:p.Ala146Thr | |
| ENST00000636725.1:n.426G>A | ||
| ENST00000636803.1:n.426G>A | ||
| ENST00000636865.1:c.292G>A | ENSP00000490601.1:p.Ala98Thr | |
| ENST00000636871.1:n.379G>A | ||
| ENST00000636978.1:n.440G>A | ||
| ENST00000636991.1:n.459G>A | ||
| ENST00000637059.1:c.70-458G>A | ENSP00000490153.1:n.70-458G>A | |
| ENST00000637088.1:n.4522G>A | ||
| ENST00000637114.1:n.428G>A | ||
| ENST00000637268.1:n.441G>A | ||
| ENST00000637291.1:n.444G>A | ||
| ENST00000637442.1:n.1931G>A | ||
| ENST00000637455.1:c.247G>A | ENSP00000489628.1:p.Ala83Thr | |
| ENST00000637457.1:n.463G>A | ||
| ENST00000637682.1:c.436G>A | ENSP00000489856.1:p.Ala146Thr | |
| ENST00000637684.1:n.538G>A | ||
| ENST00000637821.1:c.*216G>A | ENSP00000490482.1:n.*216G>A | |
| ENST00000637914.1:n.1604G>A | ||
| ENST00000637982.1:n.428G>A | ||
| ENST00000637994.1:n.446G>A | ||
| ENST00000638014.1:c.3217G>A | ||
| ENST00000638063.1:c.355G>A | ENSP00000489760.1:p.Ala119Thr | |
| ENST00000638079.1:c.*952G>A | ENSP00000490120.1:n.*952G>A | |
| ENST00000638092.1:n.426G>A | ||
| ENST00000638115.1:c.*2197G>A | ENSP00000490296.1:n.*2197G>A | |
| ENST00000273588.7:c.436G>A | ENSP00000273588.3:p.Ala146Thr | |
| ENST00000395338.6:c.436G>A | ENSP00000378747.2:p.Ala146Thr | |
| ENST00000399379.6:c.*216G>A | ENSP00000399943.1:n.*216G>A | |
| ENST00000427987.5:c.428G>A | ||
| ENST00000430521.1:c.268G>A | ENSP00000388068.1:p.Ala90Thr | |
| ENST00000458307.6:c.340-458G>A | ENSP00000415619.2:n.340-458G>A | |
| ENST00000461210.1:n.618G>A | ||
| ENST00000462048.1:n.493G>A | ||
| ENST00000465925.5:n.900G>A | ||
| ENST00000476226.5:n.501G>A | ||
| ENST00000476828.1:n.409G>A | ||
| ENST00000478594.5:n.430G>A | ||
| ENST00000480957.5:n.444G>A | ||
| ENST00000485108.5:n.430G>A | ||
| ENST00000487589.5:n.538G>A | ||
| ENST00000493046.5:n.337G>A | ||
| ENST00000495436.5:n.430-458G>A | ||
| ENST00000538581.5:c.268G>A | ENSP00000443200.1:p.Ala90Thr | |
| NM_000481.3:c.436G>A , LRG_537t1:c.436G>A | NP_000472.2:p.Ala146Thr | |
| NM_001164710.1:c.340-458G>A | NP_001158182.1:n.340-458G>A | |
| NM_001164711.1:c.268G>A | NP_001158183.1:p.Ala90Thr | |
| NM_001164712.1:c.436G>A | NP_001158184.1:p.Ala146Thr | |
| NR_028435.1:n.650G>A | ||
| NM_000481.4:c.436G>A MANE Select | NP_000472.2:p.Ala146Thr | |
| NM_001164710.2:c.340-458G>A | NP_001158182.1:n.340-458G>A | |
| NM_001164711.2:c.268G>A | NP_001158183.1:p.Ala90Thr | |
| NM_001164712.2:c.436G>A | NP_001158184.1:p.Ala146Thr | |
| NR_028435.2:n.445G>A |