Linked Data
ClinVar Variation Id:
198076
dbSNP Id:
rs750241218
ExAC:
11:6638370 G / A
gnomAD v2:
11-6638370-G-A
gnomAD v3:
11-6617139-G-A
gnomAD v4:
11-6617139-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6617139G>A , CM000673.2:g.6617139G>A | GRCh38 |
| NC_000011.9:g.6638370G>A , CM000673.1:g.6638370G>A | GRCh37 |
| NC_000011.8:g.6594946G>A | NCBI36 |
| NG_008653.1:g.7323C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.409C>T | ENSP00000507321.1:p.Arg137Cys | |
| ENST00000299427.12:c.523C>T MANE Select | ENSP00000299427.6:p.Arg175Cys | |
| ENST00000428886.7:n.758C>T | ||
| ENST00000436873.7:c.312+162C>T | ||
| ENST00000524788.2:n.1682C>T | ||
| ENST00000524903.2:n.1798C>T | ||
| ENST00000528807.2:n.179C>T | ||
| ENST00000530040.2:n.479+220C>T | ||
| ENST00000533371.6:c.-207C>T | ENSP00000437066.1:n.-207C>T | |
| ENST00000534644.6:n.471C>T | ||
| ENST00000642892.1:c.-207C>T | ENSP00000494165.1:n.-207C>T | |
| ENST00000643439.1:c.*263C>T | ENSP00000495849.1:n.*263C>T | |
| ENST00000643479.1:n.552C>T | ||
| ENST00000643516.1:c.395+162C>T | ||
| ENST00000644151.1:n.1962C>T | ||
| ENST00000644218.1:c.523C>T | ENSP00000493574.1:p.Arg175Cys | |
| ENST00000644683.1:c.465C>T | ENSP00000494085.1:p.Thr155= | |
| ENST00000644810.1:c.244C>T | ENSP00000495895.1:p.Arg82Cys | |
| ENST00000644831.1:n.699C>T | ||
| ENST00000644933.1:c.-207C>T | ENSP00000496133.1:n.-207C>T | |
| ENST00000645020.1:n.1698C>T | ||
| ENST00000645285.1:c.-207C>T | ENSP00000495058.1:n.-207C>T | |
| ENST00000645331.1:n.889C>T | ||
| ENST00000645620.1:c.-207C>T | ENSP00000493657.1:n.-207C>T | |
| ENST00000646777.1:n.699C>T | ||
| ENST00000647016.1:n.1003C>T | ||
| ENST00000647152.1:c.-207C>T | ENSP00000495893.1:n.-207C>T | |
| ENST00000647209.1:c.*392C>T | ENSP00000495558.1:n.*392C>T | |
| ENST00000647346.1:n.1543C>T | ||
| ENST00000299427.10:c.523C>T | ENSP00000299427.6:p.Arg175Cys | |
| ENST00000428886.6:n.692C>T | ||
| ENST00000436873.6:c.450+220C>T | ENSP00000398136.2:n.450+220C>T | |
| ENST00000524788.1:n.223C>T | ||
| ENST00000528571.5:c.*263C>T | ENSP00000434647.1:n.*263C>T | |
| ENST00000528807.1:n.73C>T | ||
| ENST00000533371.5:c.-207C>T | ENSP00000437066.1:n.-207C>T | |
| ENST00000534644.5:n.508C>T | ||
| ENST00000611494.4:c.523C>T | ENSP00000484546.1:p.Arg175Cys | |
| NM_000391.3:c.523C>T | NP_000382.3:p.Arg175Cys | |
| NM_000391.4:c.523C>T MANE Select | NP_000382.3:p.Arg175Cys |