Linked Data
ClinVar Variation Id:
346029
ClinVar RCV Id:
RCV000330007
dbSNP Id:
rs149457059
ExAC:
3:49455323 C / T
gnomAD v2:
3-49455323-C-T
gnomAD v3:
3-49417890-C-T
gnomAD v4:
3-49417890-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49417890C>T , CM000665.2:g.49417890C>T | GRCh38 |
| NC_000003.11:g.49455323C>T , CM000665.1:g.49455323C>T | GRCh37 |
| NC_000003.10:g.49430327C>T | NCBI36 |
| NG_015986.1:g.9789G>A , LRG_537:g.9789G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000273588.9:c.961G>A MANE Select | ENSP00000273588.3:p.Val321Met | |
| ENST00000395338.7:c.961G>A | ENSP00000378747.2:p.Val321Met | |
| ENST00000399379.7:c.693G>A | ENSP00000399943.2:n.693G>A | |
| ENST00000427987.6:c.817G>A | ENSP00000403821.2:p.Val273Met | |
| ENST00000465925.6:n.2963G>A | ||
| ENST00000473163.2:n.3577G>A | ||
| ENST00000476127.6:n.1190G>A | ||
| ENST00000476226.6:n.1382G>A | ||
| ENST00000478594.6:n.1388G>A | ||
| ENST00000493046.6:n.2750-172G>A | ||
| ENST00000538581.6:c.817G>A | ENSP00000443200.2:p.Val273Met | |
| ENST00000635772.1:n.1799G>A | ||
| ENST00000635798.1:n.392-172G>A | ||
| ENST00000635808.1:c.880G>A | ENSP00000489620.1:p.Val294Met | |
| ENST00000635889.1:n.1454G>A | ||
| ENST00000635907.1:n.592-172G>A | ||
| ENST00000635936.1:n.1229G>A | ||
| ENST00000636023.1:c.*134G>A | ENSP00000489969.1:n.*134G>A | |
| ENST00000636070.1:c.*741G>A | ENSP00000490160.1:n.*741G>A | |
| ENST00000636148.1:n.3014G>A | ||
| ENST00000636166.1:c.1198G>A | ENSP00000490106.1:p.Val400Met | |
| ENST00000636188.1:c.140G>A | ||
| ENST00000636199.1:c.523G>A | ENSP00000490871.1:p.Val175Met | |
| ENST00000636204.1:n.2243G>A | ||
| ENST00000636461.1:c.4495G>A | ||
| ENST00000636522.1:c.793G>A | ENSP00000489758.1:p.Val265Met | |
| ENST00000636587.1:n.1047G>A | ||
| ENST00000636594.1:n.483G>A | ||
| ENST00000636597.1:c.551-172G>A | ENSP00000490251.1:n.551-172G>A | |
| ENST00000636725.1:n.1677G>A | ||
| ENST00000636803.1:n.1303G>A | ||
| ENST00000636865.1:c.805G>A | ENSP00000490601.1:p.Val269Met | |
| ENST00000636871.1:n.1326G>A | ||
| ENST00000636978.1:n.1073G>A | ||
| ENST00000636991.1:n.1406G>A | ||
| ENST00000637059.1:c.413G>A | ENSP00000490153.1:n.413G>A | |
| ENST00000637088.1:n.5773G>A | ||
| ENST00000637114.1:n.1061G>A | ||
| ENST00000637268.1:n.1862G>A | ||
| ENST00000637291.1:n.1695G>A | ||
| ENST00000637442.1:n.3182G>A | ||
| ENST00000637455.1:c.772G>A | ENSP00000489628.1:p.Val258Met | |
| ENST00000637457.1:n.1822G>A | ||
| ENST00000637527.1:n.253G>A | ||
| ENST00000637682.1:c.878-172G>A | ENSP00000489856.1:n.878-172G>A | |
| ENST00000637684.1:n.1171G>A | ||
| ENST00000637821.1:c.*1228+43G>A | ENSP00000490482.1:n.*1228+43G>A | |
| ENST00000637914.1:n.2855G>A | ||
| ENST00000637982.1:n.1375G>A | ||
| ENST00000637994.1:n.1501G>A | ||
| ENST00000638014.1:c.3742G>A | ||
| ENST00000638063.1:c.880G>A | ENSP00000489760.1:p.Val294Met | |
| ENST00000638079.1:c.*1473G>A | ENSP00000490120.1:n.*1473G>A | |
| ENST00000638092.1:n.1481G>A | ||
| ENST00000638115.1:c.*2722G>A | ENSP00000490296.1:n.*2722G>A | |
| ENST00000273588.7:c.961G>A | ENSP00000273588.3:p.Val321Met | |
| ENST00000395338.6:c.961G>A | ENSP00000378747.2:p.Val321Met | |
| ENST00000399379.6:c.*741G>A | ENSP00000399943.1:n.*741G>A | |
| ENST00000427987.5:c.953G>A | ||
| ENST00000458307.6:c.829G>A | ENSP00000415619.2:p.Val277Met | |
| ENST00000465925.5:n.2259G>A | ||
| ENST00000473163.1:n.330G>A | ||
| ENST00000476127.5:n.720G>A | ||
| ENST00000476226.5:n.1026G>A | ||
| ENST00000495436.5:n.655-172G>A | ||
| ENST00000538581.5:c.793G>A | ENSP00000443200.1:p.Val265Met | |
| NM_000481.3:c.961G>A , LRG_537t1:c.961G>A | NP_000472.2:p.Val321Met | |
| NM_001164710.1:c.829G>A | NP_001158182.1:p.Val277Met | |
| NM_001164711.1:c.793G>A | NP_001158183.1:p.Val265Met | |
| NM_001164712.1:c.961G>A | NP_001158184.1:p.Val321Met | |
| NR_028435.1:n.1175G>A | ||
| NM_000481.4:c.961G>A MANE Select | NP_000472.2:p.Val321Met | |
| NM_001164710.2:c.829G>A | NP_001158182.1:p.Val277Met | |
| NM_001164711.2:c.793G>A | NP_001158183.1:p.Val265Met | |
| NM_001164712.2:c.961G>A | NP_001158184.1:p.Val321Met | |
| NR_028435.2:n.970G>A |