Linked Data
ClinVar Variation Id:
576289
dbSNP Id:
rs143584882
ExAC:
11:6636687 G / A
gnomAD v2:
11-6636687-G-A
gnomAD v3:
11-6615456-G-A
gnomAD v4:
11-6615456-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6615456G>A , CM000673.2:g.6615456G>A | GRCh38 |
| NC_000011.9:g.6636687G>A , CM000673.1:g.6636687G>A | GRCh37 |
| NC_000011.8:g.6593263G>A | NCBI36 |
| NG_008653.1:g.9006C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.1138C>T | ENSP00000507321.1:p.Arg380Trp | |
| ENST00000299427.12:c.1252C>T MANE Select | ENSP00000299427.6:p.Arg418Trp | |
| ENST00000436873.7:c.489C>T | ||
| ENST00000524924.2:n.372C>T | ||
| ENST00000533371.6:c.523C>T | ENSP00000437066.1:p.Arg175Trp | |
| ENST00000642892.1:c.523C>T | ENSP00000494165.1:p.Arg175Trp | |
| ENST00000643342.1:c.325C>T | ||
| ENST00000643439.1:c.*992C>T | ENSP00000495849.1:n.*992C>T | |
| ENST00000643479.1:n.1438C>T | ||
| ENST00000643516.1:c.761C>T | ||
| ENST00000644218.1:c.1063C>T | ENSP00000493574.1:p.Arg355Trp | |
| ENST00000644683.1:c.*705C>T | ENSP00000494085.1:n.*705C>T | |
| ENST00000644810.1:c.973C>T | ENSP00000495895.1:p.Arg325Trp | |
| ENST00000644831.1:n.1428C>T | ||
| ENST00000644933.1:c.*118C>T | ENSP00000496133.1:n.*118C>T | |
| ENST00000645285.1:c.*118C>T | ENSP00000495058.1:n.*118C>T | |
| ENST00000645331.1:n.2457C>T | ||
| ENST00000645620.1:c.523C>T | ENSP00000493657.1:p.Arg175Trp | |
| ENST00000646691.1:n.1027C>T | ||
| ENST00000646777.1:n.1585C>T | ||
| ENST00000647016.1:n.1732C>T | ||
| ENST00000647152.1:c.523C>T | ENSP00000495893.1:p.Arg175Trp | |
| ENST00000647209.1:c.*1121C>T | ENSP00000495558.1:n.*1121C>T | |
| ENST00000647346.1:n.2272C>T | ||
| ENST00000299427.10:c.1252C>T | ENSP00000299427.6:p.Arg418Trp | |
| ENST00000524611.1:n.18C>T | ||
| ENST00000524924.1:n.207C>T | ||
| ENST00000532191.1:n.305C>T | ||
| ENST00000533371.5:c.523C>T | ENSP00000437066.1:p.Arg175Trp | |
| ENST00000611494.4:c.1252C>T | ENSP00000484546.1:p.Arg418Trp | |
| NM_000391.3:c.1252C>T | NP_000382.3:p.Arg418Trp | |
| NM_000391.4:c.1252C>T MANE Select | NP_000382.3:p.Arg418Trp |