Linked Data
ClinVar Variation Id:
56231
ClinVar RCV Id:
RCV000049643
dbSNP Id:
rs386833682
gnomAD v2:
3-49457681-T-A
gnomAD v4:
3-49420248-T-A
PubMed:
PMID:11286506
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49420248T>A , CM000665.2:g.49420248T>A | GRCh38 |
| NC_000003.11:g.49457681T>A , CM000665.1:g.49457681T>A | GRCh37 |
| NC_000003.10:g.49432685T>A | NCBI36 |
| NG_015986.1:g.7431A>T , LRG_537:g.7431A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000273588.9:c.434A>T MANE Select | ENSP00000273588.3:p.Asn145Ile | |
| ENST00000395338.7:c.434A>T | ENSP00000378747.2:p.Asn145Ile | |
| ENST00000399379.7:c.236A>T | ENSP00000399943.2:p.Asn79Ile | |
| ENST00000427987.6:c.290A>T | ENSP00000403821.2:p.Asn97Ile | |
| ENST00000430521.2:c.*236A>T | ENSP00000388068.2:n.*236A>T | |
| ENST00000462048.2:c.143A>T | ENSP00000490465.1:p.Asn48Ile | |
| ENST00000465925.6:n.1602A>T | ||
| ENST00000473163.2:n.2216A>T | ||
| ENST00000476127.6:n.311A>T | ||
| ENST00000476226.6:n.433A>T | ||
| ENST00000476828.2:n.407A>T | ||
| ENST00000478594.6:n.439A>T | ||
| ENST00000480957.6:n.1601A>T | ||
| ENST00000485108.6:n.564A>T | ||
| ENST00000487589.6:n.347A>T | ||
| ENST00000491800.3:n.2225A>T | ||
| ENST00000493046.6:n.2211A>T | ||
| ENST00000538581.6:c.290A>T | ENSP00000443200.2:p.Asn97Ile | |
| ENST00000635772.1:n.438A>T | ||
| ENST00000635808.1:c.353A>T | ENSP00000489620.1:p.Asn118Ile | |
| ENST00000635889.1:n.443A>T | ||
| ENST00000635936.1:n.426A>T | ||
| ENST00000636023.1:c.434A>T | ENSP00000489969.1:p.Asn145Ile | |
| ENST00000636070.1:c.*214A>T | ENSP00000490160.1:n.*214A>T | |
| ENST00000636148.1:n.1653A>T | ||
| ENST00000636166.1:c.671A>T | ENSP00000490106.1:p.Asn224Ile | |
| ENST00000636199.1:c.259-1097A>T | ENSP00000490871.1:n.259-1097A>T | |
| ENST00000636204.1:n.1716A>T | ||
| ENST00000636461.1:c.3546A>T | ||
| ENST00000636522.1:c.266A>T | ENSP00000489758.1:p.Asn89Ile | |
| ENST00000636587.1:n.666A>T | ||
| ENST00000636597.1:c.434A>T | ENSP00000490251.1:p.Asn145Ile | |
| ENST00000636725.1:n.424A>T | ||
| ENST00000636803.1:n.424A>T | ||
| ENST00000636865.1:c.290A>T | ENSP00000490601.1:p.Asn97Ile | |
| ENST00000636871.1:n.377A>T | ||
| ENST00000636978.1:n.438A>T | ||
| ENST00000636991.1:n.457A>T | ||
| ENST00000637059.1:c.70-460A>T | ENSP00000490153.1:n.70-460A>T | |
| ENST00000637088.1:n.4520A>T | ||
| ENST00000637114.1:n.426A>T | ||
| ENST00000637268.1:n.439A>T | ||
| ENST00000637291.1:n.442A>T | ||
| ENST00000637442.1:n.1929A>T | ||
| ENST00000637455.1:c.245A>T | ENSP00000489628.1:p.Asn82Ile | |
| ENST00000637457.1:n.461A>T | ||
| ENST00000637682.1:c.434A>T | ENSP00000489856.1:p.Asn145Ile | |
| ENST00000637684.1:n.536A>T | ||
| ENST00000637821.1:c.*214A>T | ENSP00000490482.1:n.*214A>T | |
| ENST00000637914.1:n.1602A>T | ||
| ENST00000637982.1:n.426A>T | ||
| ENST00000637994.1:n.444A>T | ||
| ENST00000638014.1:c.3215A>T | ||
| ENST00000638063.1:c.353A>T | ENSP00000489760.1:p.Asn118Ile | |
| ENST00000638079.1:c.*950A>T | ENSP00000490120.1:n.*950A>T | |
| ENST00000638092.1:n.424A>T | ||
| ENST00000638115.1:c.*2195A>T | ENSP00000490296.1:n.*2195A>T | |
| ENST00000273588.7:c.434A>T | ENSP00000273588.3:p.Asn145Ile | |
| ENST00000395338.6:c.434A>T | ENSP00000378747.2:p.Asn145Ile | |
| ENST00000399379.6:c.*214A>T | ENSP00000399943.1:n.*214A>T | |
| ENST00000427987.5:c.426A>T | ||
| ENST00000430521.1:c.266A>T | ENSP00000388068.1:p.Asn89Ile | |
| ENST00000458307.6:c.340-460A>T | ENSP00000415619.2:n.340-460A>T | |
| ENST00000461210.1:n.616A>T | ||
| ENST00000462048.1:n.491A>T | ||
| ENST00000465925.5:n.898A>T | ||
| ENST00000476226.5:n.499A>T | ||
| ENST00000476828.1:n.407A>T | ||
| ENST00000478594.5:n.428A>T | ||
| ENST00000480957.5:n.442A>T | ||
| ENST00000485108.5:n.428A>T | ||
| ENST00000487589.5:n.536A>T | ||
| ENST00000493046.5:n.335A>T | ||
| ENST00000495436.5:n.430-460A>T | ||
| ENST00000538581.5:c.266A>T | ENSP00000443200.1:p.Asn89Ile | |
| NM_000481.3:c.434A>T , LRG_537t1:c.434A>T | NP_000472.2:p.Asn145Ile | |
| NM_001164710.1:c.340-460A>T | NP_001158182.1:n.340-460A>T | |
| NM_001164711.1:c.266A>T | NP_001158183.1:p.Asn89Ile | |
| NM_001164712.1:c.434A>T | NP_001158184.1:p.Asn145Ile | |
| NR_028435.1:n.648A>T | ||
| NM_000481.4:c.434A>T MANE Select | NP_000472.2:p.Asn145Ile | |
| NM_001164710.2:c.340-460A>T | NP_001158182.1:n.340-460A>T | |
| NM_001164711.2:c.266A>T | NP_001158183.1:p.Asn89Ile | |
| NM_001164712.2:c.434A>T | NP_001158184.1:p.Asn145Ile | |
| NR_028435.2:n.443A>T |