Linked Data
ClinVar Variation Id:
1354752
ClinVar RCV Id:
RCV001876320
dbSNP Id:
rs187162634
ExAC:
1:235602102 C / T
gnomAD v2:
1-235602102-C-T
gnomAD v3:
1-235438787-C-T
gnomAD v4:
1-235438787-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.235438787C>T , CM000663.2:g.235438787C>T | GRCh38 |
| NC_000001.10:g.235602102C>T , CM000663.1:g.235602102C>T | GRCh37 |
| NC_000001.9:g.233668725C>T | NCBI36 |
| NG_009230.1:g.76375C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366601.8:c.946C>T | ENSP00000355560.4:p.Arg316Trp | |
| ENST00000406207.5:c.1135C>T | ENSP00000384571.1:p.Arg379Trp | |
| ENST00000472011.6:n.1859C>T | ||
| ENST00000543662.4:c.1288C>T | ENSP00000439170.1:p.Arg430Trp | |
| ENST00000642339.1:c.*832C>T | ENSP00000495425.1:n.*832C>T | |
| ENST00000642431.1:c.1712C>T | ||
| ENST00000642463.1:c.*1033C>T | ENSP00000495007.1:n.*1033C>T | |
| ENST00000642503.1:c.*909C>T | ENSP00000494334.1:n.*909C>T | |
| ENST00000642610.2:c.1135C>T MANE Select | ENSP00000494796.1:p.Arg379Trp | |
| ENST00000642764.1:n.1966C>T | ||
| ENST00000643125.1:c.*150C>T | ENSP00000494102.1:n.*150C>T | |
| ENST00000643142.1:c.*626C>T | ENSP00000494755.1:n.*626C>T | |
| ENST00000643238.1:c.*155C>T | ENSP00000495916.1:n.*155C>T | |
| ENST00000643410.1:c.*425C>T | ENSP00000495030.1:n.*425C>T | |
| ENST00000643487.1:n.1822C>T | ||
| ENST00000643524.1:c.*720C>T | ENSP00000494026.1:n.*720C>T | |
| ENST00000643615.1:c.*1116+1313C>T | ENSP00000496103.1:n.*1116+1313C>T | |
| ENST00000643993.1:n.1271C>T | ||
| ENST00000643994.1:c.*1135C>T | ENSP00000496322.1:n.*1135C>T | |
| ENST00000644037.1:c.*1345C>T | ENSP00000496408.1:n.*1345C>T | |
| ENST00000644055.1:c.*1760C>T | ENSP00000496307.1:n.*1760C>T | |
| ENST00000644126.1:n.2807C>T | ||
| ENST00000644217.1:c.1135C>T | ENSP00000494646.1:p.Arg379Trp | |
| ENST00000644265.1:c.504C>T | ||
| ENST00000644578.1:c.949C>T | ENSP00000495953.1:p.Arg317Trp | |
| ENST00000644604.1:c.1135C>T | ENSP00000495961.1:p.Arg379Trp | |
| ENST00000644680.1:c.*1656C>T | ENSP00000496173.1:n.*1656C>T | |
| ENST00000644838.1:c.*518C>T | ENSP00000495910.1:n.*518C>T | |
| ENST00000644910.1:c.1742C>T | ||
| ENST00000645205.1:c.1135C>T | ENSP00000495823.1:p.Arg379Trp | |
| ENST00000645351.1:c.1135C>T | ENSP00000494319.1:p.Arg379Trp | |
| ENST00000645551.1:c.*852C>T | ENSP00000495928.1:n.*852C>T | |
| ENST00000645578.1:c.*909C>T | ENSP00000496495.1:n.*909C>T | |
| ENST00000645582.1:c.*965C>T | ENSP00000494980.1:n.*965C>T | |
| ENST00000645655.1:c.1135C>T | ENSP00000495202.1:p.Arg379Trp | |
| ENST00000645662.1:c.*594C>T | ENSP00000495964.1:n.*594C>T | |
| ENST00000645836.1:c.*909C>T | ENSP00000493915.1:n.*909C>T | |
| ENST00000645899.1:c.1135C>T | ENSP00000496773.1:p.Arg379Trp | |
| ENST00000645964.1:c.*1001C>T | ENSP00000494208.1:n.*1001C>T | |
| ENST00000646104.1:c.*1603C>T | ENSP00000495475.1:n.*1603C>T | |
| ENST00000646186.1:c.*807C>T | ENSP00000493806.1:n.*807C>T | |
| ENST00000646286.1:c.*1028C>T | ENSP00000494291.1:n.*1028C>T | |
| ENST00000646463.1:c.*900C>T | ENSP00000494541.1:n.*900C>T | |
| ENST00000646528.1:c.*1851C>T | ENSP00000496553.1:n.*1851C>T | |
| ENST00000646536.1:c.*425C>T | ENSP00000494801.1:n.*425C>T | |
| ENST00000646624.1:c.1135C>T | ENSP00000494575.1:p.Arg379Trp | |
| ENST00000646821.1:c.*425C>T | ENSP00000495257.1:n.*425C>T | |
| ENST00000646842.1:n.579C>T | ||
| ENST00000646848.1:c.*350C>T | ENSP00000495831.1:n.*350C>T | |
| ENST00000647186.1:c.1135C>T | ENSP00000494775.1:p.Arg379Trp | |
| ENST00000647233.1:n.2115C>T | ||
| ENST00000647322.1:c.726C>T | ||
| ENST00000647418.1:c.*909C>T | ENSP00000493552.1:n.*909C>T | |
| ENST00000647428.1:c.796C>T | ENSP00000495630.1:p.Arg266Trp | |
| ENST00000651186.1:c.796C>T | ENSP00000498645.1:p.Arg266Trp | |
| ENST00000366601.7:c.1135C>T | ENSP00000355560.3:p.Arg379Trp | |
| ENST00000406207.4:c.1135C>T | ENSP00000384571.1:p.Arg379Trp | |
| ENST00000472011.5:n.1187C>T | ||
| ENST00000543662.3:c.1288C>T | ENSP00000439170.1:p.Arg430Trp | |
| NM_001079515.2:c.1135C>T | NP_001072983.1:p.Arg379Trp | |
| NM_001287801.1:c.1288C>T | NP_001274730.1:p.Arg430Trp | |
| NM_001287802.1:c.796C>T | NP_001274731.1:p.Arg266Trp | |
| NM_003193.4:c.1135C>T | NP_003184.1:p.Arg379Trp | |
| NM_003193.5:c.1135C>T MANE Select | NP_003184.1:p.Arg379Trp | |
| NM_001079515.3:c.1135C>T | NP_001072983.1:p.Arg379Trp | |
| NM_001287801.2:c.1288C>T | NP_001274730.1:p.Arg430Trp | |
| NM_001287802.2:c.796C>T | NP_001274731.1:p.Arg266Trp |