Linked Data
ClinVar Variation Id:
56226
ClinVar RCV Id:
RCV000049638
dbSNP Id:
rs121964982
PubMed:
PMID:16450403
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49422223C>A , CM000665.2:g.49422223C>A | GRCh38 |
| NC_000003.11:g.49459656C>A , CM000665.1:g.49459656C>A | GRCh37 |
| NC_000003.10:g.49434660C>A | NCBI36 |
| NG_015986.1:g.5456G>T , LRG_537:g.5456G>T | |
| NG_033046.1:g.12102G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000273588.9:c.139G>T MANE Select | ENSP00000273588.3:p.Gly47Trp | |
| ENST00000395338.7:c.139G>T | ENSP00000378747.2:p.Gly47Trp | |
| ENST00000399379.7:c.60+138G>T | ENSP00000399943.2:n.60+138G>T | |
| ENST00000427987.6:c.-6G>T | ENSP00000403821.2:n.-6G>T | |
| ENST00000430521.2:c.90+138G>T | ENSP00000388068.2:n.90+138G>T | |
| ENST00000462048.2:c.-101-174G>T | ENSP00000490465.1:n.-101-174G>T | |
| ENST00000465925.6:n.158G>T | ||
| ENST00000473163.2:n.241G>T | ||
| ENST00000476127.6:n.16G>T | ||
| ENST00000476226.6:n.138G>T | ||
| ENST00000478594.6:n.144G>T | ||
| ENST00000480957.6:n.157G>T | ||
| ENST00000485108.6:n.269G>T | ||
| ENST00000487589.6:n.52G>T | ||
| ENST00000491800.3:n.250G>T | ||
| ENST00000493046.6:n.236G>T | ||
| ENST00000538581.6:c.-6G>T | ENSP00000443200.2:n.-6G>T | |
| ENST00000635772.1:n.143G>T | ||
| ENST00000635808.1:c.139G>T | ENSP00000489620.1:p.Gly47Trp | |
| ENST00000635889.1:n.148G>T | ||
| ENST00000635936.1:n.131G>T | ||
| ENST00000636023.1:c.139G>T | ENSP00000489969.1:p.Gly47Trp | |
| ENST00000636070.1:c.90+138G>T | ENSP00000490160.1:n.90+138G>T | |
| ENST00000636148.1:n.209G>T | ||
| ENST00000636166.1:c.496-651G>T | ENSP00000490106.1:n.496-651G>T | |
| ENST00000636199.1:c.139G>T | ENSP00000490871.1:p.Gly47Trp | |
| ENST00000636204.1:n.1421G>T | ||
| ENST00000636461.1:c.3251G>T | ||
| ENST00000636522.1:c.90+138G>T | ENSP00000489758.1:n.90+138G>T | |
| ENST00000636587.1:n.371G>T | ||
| ENST00000636597.1:c.139G>T | ENSP00000490251.1:p.Gly47Trp | |
| ENST00000636725.1:n.129G>T | ||
| ENST00000636803.1:n.129G>T | ||
| ENST00000636865.1:c.-6G>T | ENSP00000490601.1:n.-6G>T | |
| ENST00000636871.1:n.82G>T | ||
| ENST00000636978.1:n.143G>T | ||
| ENST00000636991.1:n.162G>T | ||
| ENST00000637088.1:n.3694G>T | ||
| ENST00000637114.1:n.131G>T | ||
| ENST00000637268.1:n.144G>T | ||
| ENST00000637291.1:n.147G>T | ||
| ENST00000637442.1:n.1634G>T | ||
| ENST00000637457.1:n.166G>T | ||
| ENST00000637682.1:c.139G>T | ENSP00000489856.1:p.Gly47Trp | |
| ENST00000637684.1:n.241G>T | ||
| ENST00000637821.1:c.90+138G>T | ENSP00000490482.1:n.90+138G>T | |
| ENST00000637914.1:n.158G>T | ||
| ENST00000637982.1:n.131G>T | ||
| ENST00000637994.1:n.149G>T | ||
| ENST00000638014.1:c.2920G>T | ||
| ENST00000638063.1:c.139G>T | ENSP00000489760.1:p.Gly47Trp | |
| ENST00000638079.1:c.*655G>T | ENSP00000490120.1:n.*655G>T | |
| ENST00000638092.1:n.129G>T | ||
| ENST00000638115.1:c.*1900G>T | ENSP00000490296.1:n.*1900G>T | |
| ENST00000273588.7:c.139G>T | ENSP00000273588.3:p.Gly47Trp | |
| ENST00000395338.6:c.139G>T | ENSP00000378747.2:p.Gly47Trp | |
| ENST00000399379.6:c.90+138G>T | ENSP00000399943.1:n.90+138G>T | |
| ENST00000427987.5:c.131G>T | ||
| ENST00000430521.1:c.90+138G>T | ENSP00000388068.1:n.90+138G>T | |
| ENST00000458307.6:c.139G>T | ENSP00000415619.2:p.Gly47Trp | |
| ENST00000462048.1:n.248-174G>T | ||
| ENST00000476226.5:n.204G>T | ||
| ENST00000478594.5:n.133G>T | ||
| ENST00000480957.5:n.147G>T | ||
| ENST00000485108.5:n.133G>T | ||
| ENST00000487589.5:n.241G>T | ||
| ENST00000493046.5:n.91+138G>T | ||
| ENST00000495436.5:n.229G>T | ||
| ENST00000498571.1:n.137G>T | ||
| ENST00000538581.5:c.90+138G>T | ENSP00000443200.1:n.90+138G>T | |
| NM_000481.3:c.139G>T , LRG_537t1:c.139G>T | NP_000472.2:p.Gly47Trp | |
| NM_001164710.1:c.139G>T | NP_001158182.1:p.Gly47Trp | |
| NM_001164711.1:c.90+138G>T | NP_001158183.1:n.90+138G>T | |
| NM_001164712.1:c.139G>T | NP_001158184.1:p.Gly47Trp | |
| NR_028435.1:n.353G>T | ||
| NM_000481.4:c.139G>T MANE Select | NP_000472.2:p.Gly47Trp | |
| NM_001164710.2:c.139G>T | NP_001158182.1:p.Gly47Trp | |
| NM_001164711.2:c.90+138G>T | NP_001158183.1:n.90+138G>T | |
| NM_001164712.2:c.139G>T | NP_001158184.1:p.Gly47Trp | |
| NR_028435.2:n.148G>T |