Linked Data
ClinVar Variation Id:
100768
ClinVar RCV Id:
RCV000087132
dbSNP Id:
rs587777151
gnomAD v3:
10-27533759-C-G
gnomAD v4:
10-27533759-C-G
PubMed:
PMID:23420520
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.27533759C>G , CM000672.2:g.27533759C>G | GRCh38 |
| NC_000010.10:g.27822688C>G , CM000672.1:g.27822688C>G | GRCh37 |
| NC_000010.9:g.27862694C>G | NCBI36 |
| NG_032035.1:g.34586C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000423465.2:c.110C>G | ENSP00000407872.2:p.Thr37Arg | |
| ENST00000535776.6:c.371C>G | ENSP00000439321.2:p.Thr124Arg | |
| ENST00000611151.5:c.*72C>G | ENSP00000483927.2:n.*72C>G | |
| ENST00000621805.5:c.371C>G | ENSP00000478479.1:p.Thr124Arg | |
| ENST00000682082.1:c.284C>G | ENSP00000507542.1:p.Thr95Arg | |
| ENST00000682138.1:n.5819C>G | ||
| ENST00000682173.1:c.57-169C>G | ||
| ENST00000682181.1:c.*589C>G | ENSP00000507392.1:n.*589C>G | |
| ENST00000682389.1:c.187-169C>G | ENSP00000507154.1:n.187-169C>G | |
| ENST00000682518.1:n.225C>G | ||
| ENST00000682668.1:c.637C>G | ||
| ENST00000682777.1:n.1377C>G | ||
| ENST00000682852.1:c.*129C>G | ENSP00000508341.1:n.*129C>G | |
| ENST00000682963.1:c.-68C>G | ENSP00000507532.1:n.-68C>G | |
| ENST00000683042.1:n.368C>G | ||
| ENST00000683088.1:n.326C>G | ||
| ENST00000683385.1:n.117C>G | ||
| ENST00000683419.1:c.*72C>G | ENSP00000508094.1:n.*72C>G | |
| ENST00000683446.1:n.217C>G | ||
| ENST00000683538.1:c.637C>G | ||
| ENST00000683755.1:c.284C>G | ENSP00000506993.1:p.Thr95Arg | |
| ENST00000683797.1:c.-68C>G | ENSP00000508179.1:n.-68C>G | |
| ENST00000683816.1:c.*302-169C>G | ENSP00000507834.1:n.*302-169C>G | |
| ENST00000683866.1:c.87C>G | ||
| ENST00000683924.1:c.68C>G | ENSP00000507963.1:p.Thr23Arg | |
| ENST00000684134.1:n.5244C>G | ||
| ENST00000684393.1:c.*589C>G | ENSP00000507136.1:n.*589C>G | |
| ENST00000684501.1:c.284C>G | ENSP00000507589.1:p.Thr95Arg | |
| ENST00000356940.11:c.284C>G MANE Select | ENSP00000349415.7:p.Thr95Arg | |
| ENST00000356940.10:c.284C>G | ENSP00000349415.6:p.Thr95Arg | |
| ENST00000375802.7:c.149C>G | ENSP00000364960.3:p.Thr50Arg | |
| ENST00000423465.1:c.621C>G | ||
| ENST00000465772.5:n.277C>G | ||
| ENST00000535776.5:c.187-169C>G | ENSP00000439321.1:n.187-169C>G | |
| ENST00000611151.4:c.212C>G | ENSP00000483927.1:p.Thr71Arg | |
| ENST00000621805.4:c.371C>G | ENSP00000478479.1:p.Thr124Arg | |
| NM_001256410.1:c.371C>G | NP_001243339.1:p.Thr124Arg | |
| NM_001256411.1:c.284C>G | NP_001243340.1:p.Thr95Arg | |
| NM_001256412.1:c.187-169C>G | NP_001243341.1:n.187-169C>G | |
| NM_001256415.1:c.212C>G | NP_001243344.1:p.Thr71Arg | |
| NM_021252.4:c.284C>G | NP_067075.1:p.Thr95Arg | |
| NR_046172.1:n.418C>G | ||
| NM_001256410.2:c.371C>G | NP_001243339.1:p.Thr124Arg | |
| NM_001256411.2:c.284C>G | NP_001243340.1:p.Thr95Arg | |
| NM_001256412.2:c.187-169C>G | NP_001243341.1:n.187-169C>G | |
| NM_001256415.2:c.212C>G | NP_001243344.1:p.Thr71Arg | |
| NM_021252.5:c.284C>G MANE Select | NP_067075.1:p.Thr95Arg | |
| NR_046172.2:n.288C>G |