Linked Data
ClinVar Variation Id:
207568
dbSNP Id:
rs201613668
ExAC:
11:6638918 C / T
gnomAD v2:
11-6638918-C-T
gnomAD v3:
11-6617687-C-T
gnomAD v4:
11-6617687-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6617687C>T , CM000673.2:g.6617687C>T | GRCh38 |
| NC_000011.9:g.6638918C>T , CM000673.1:g.6638918C>T | GRCh37 |
| NC_000011.8:g.6595494C>T | NCBI36 |
| NG_008653.1:g.6775G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.205G>A | ENSP00000507321.1:p.Gly69Arg | |
| ENST00000299427.12:c.319G>A MANE Select | ENSP00000299427.6:p.Gly107Arg | |
| ENST00000428886.7:n.407G>A | ||
| ENST00000436873.7:c.123G>A | ||
| ENST00000524788.2:n.1331G>A | ||
| ENST00000524903.2:n.1447G>A | ||
| ENST00000528571.6:c.*59G>A | ENSP00000434647.1:n.*59G>A | |
| ENST00000530040.2:n.348G>A | ||
| ENST00000533371.6:c.-411G>A | ENSP00000437066.1:n.-411G>A | |
| ENST00000534644.6:n.320G>A | ||
| ENST00000642892.1:c.-358G>A | ENSP00000494165.1:n.-358G>A | |
| ENST00000643439.1:c.*59G>A | ENSP00000495849.1:n.*59G>A | |
| ENST00000643479.1:n.348G>A | ||
| ENST00000643516.1:c.206G>A | ||
| ENST00000644151.1:n.1611G>A | ||
| ENST00000644218.1:c.319G>A | ENSP00000493574.1:p.Gly107Arg | |
| ENST00000644683.1:c.319G>A | ENSP00000494085.1:p.Gly107Arg | |
| ENST00000644810.1:c.230-534G>A | ENSP00000495895.1:n.230-534G>A | |
| ENST00000644831.1:n.348G>A | ||
| ENST00000644933.1:c.-411G>A | ENSP00000496133.1:n.-411G>A | |
| ENST00000645020.1:n.1347G>A | ||
| ENST00000645285.1:c.-411G>A | ENSP00000495058.1:n.-411G>A | |
| ENST00000645331.1:n.341G>A | ||
| ENST00000645620.1:c.-353G>A | ENSP00000493657.1:n.-353G>A | |
| ENST00000646777.1:n.348G>A | ||
| ENST00000647016.1:n.652G>A | ||
| ENST00000647152.1:c.-411G>A | ENSP00000495893.1:n.-411G>A | |
| ENST00000647209.1:c.*188G>A | ENSP00000495558.1:n.*188G>A | |
| ENST00000647346.1:n.1339G>A | ||
| ENST00000299427.10:c.319G>A | ENSP00000299427.6:p.Gly107Arg | |
| ENST00000428886.6:n.341G>A | ||
| ENST00000436873.6:c.319G>A | ENSP00000398136.2:p.Gly107Arg | |
| ENST00000528571.5:c.*59G>A | ENSP00000434647.1:n.*59G>A | |
| ENST00000530040.1:n.431G>A | ||
| ENST00000533371.5:c.-411G>A | ENSP00000437066.1:n.-411G>A | |
| ENST00000534644.5:n.304G>A | ||
| ENST00000611494.4:c.319G>A | ENSP00000484546.1:p.Gly107Arg | |
| NM_000391.3:c.319G>A | NP_000382.3:p.Gly107Arg | |
| NM_000391.4:c.319G>A MANE Select | NP_000382.3:p.Gly107Arg |