Linked Data
ClinVar Variation Id:
1123425
ClinVar RCV Id:
RCV001454444
dbSNP Id:
rs773514151
ExAC:
11:6638236 G / A
gnomAD v2:
11-6638236-G-A
gnomAD v4:
11-6617005-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6617005G>A , CM000673.2:g.6617005G>A | GRCh38 |
| NC_000011.9:g.6638236G>A , CM000673.1:g.6638236G>A | GRCh37 |
| NC_000011.8:g.6594812G>A | NCBI36 |
| NG_008653.1:g.7457C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.543C>T | ENSP00000507321.1:p.Gly181= | |
| ENST00000299427.12:c.657C>T MANE Select | ENSP00000299427.6:p.Gly219= | |
| ENST00000436873.7:c.312+296C>T | ||
| ENST00000524788.2:n.1816C>T | ||
| ENST00000524903.2:n.1932C>T | ||
| ENST00000528807.2:n.313C>T | ||
| ENST00000530040.2:n.479+354C>T | ||
| ENST00000533371.6:c.-73C>T | ENSP00000437066.1:n.-73C>T | |
| ENST00000534644.6:n.605C>T | ||
| ENST00000642892.1:c.-73C>T | ENSP00000494165.1:n.-73C>T | |
| ENST00000643439.1:c.*397C>T | ENSP00000495849.1:n.*397C>T | |
| ENST00000643479.1:n.686C>T | ||
| ENST00000643516.1:c.395+296C>T | ||
| ENST00000644151.1:n.2096C>T | ||
| ENST00000644218.1:c.657C>T | ENSP00000493574.1:p.Gly219= | |
| ENST00000644683.1:c.*110C>T | ENSP00000494085.1:n.*110C>T | |
| ENST00000644810.1:c.378C>T | ENSP00000495895.1:p.Gly126= | |
| ENST00000644831.1:n.833C>T | ||
| ENST00000644933.1:c.-73C>T | ENSP00000496133.1:n.-73C>T | |
| ENST00000645020.1:n.1832C>T | ||
| ENST00000645285.1:c.-73C>T | ENSP00000495058.1:n.-73C>T | |
| ENST00000645331.1:n.1023C>T | ||
| ENST00000645620.1:c.-73C>T | ENSP00000493657.1:n.-73C>T | |
| ENST00000646777.1:n.833C>T | ||
| ENST00000647016.1:n.1137C>T | ||
| ENST00000647152.1:c.-73C>T | ENSP00000495893.1:n.-73C>T | |
| ENST00000647209.1:c.*526C>T | ENSP00000495558.1:n.*526C>T | |
| ENST00000647346.1:n.1677C>T | ||
| ENST00000299427.10:c.657C>T | ENSP00000299427.6:p.Gly219= | |
| ENST00000428886.6:n.826C>T | ||
| ENST00000436873.6:c.450+354C>T | ENSP00000398136.2:n.450+354C>T | |
| ENST00000524788.1:n.357C>T | ||
| ENST00000528571.5:c.*397C>T | ENSP00000434647.1:n.*397C>T | |
| ENST00000528807.1:n.207C>T | ||
| ENST00000533371.5:c.-73C>T | ENSP00000437066.1:n.-73C>T | |
| ENST00000611494.4:c.657C>T | ENSP00000484546.1:p.Gly219= | |
| NM_000391.3:c.657C>T | NP_000382.3:p.Gly219= | |
| NM_000391.4:c.657C>T MANE Select | NP_000382.3:p.Gly219= |