Linked Data
ClinVar Variation Id:
2013121
ClinVar RCV Id:
RCV002856401
dbSNP Id:
rs773987670
ExAC:
X:13776565 C / G
gnomAD v2:
X-13776565-C-G
gnomAD v3:
X-13758446-C-G
gnomAD v4:
X-13758446-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.13758446C>G , CM000685.2:g.13758446C>G | GRCh38 |
| NC_000023.10:g.13776565C>G , CM000685.1:g.13776565C>G | GRCh37 |
| NC_000023.9:g.13686486C>G | NCBI36 |
| NG_008872.1:g.28734C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380567.6:c.*1345C>G | ENSP00000369941.2:n.*1345C>G | |
| ENST00000398395.8:c.*1115+656C>G | ENSP00000381432.5:n.*1115+656C>G | |
| ENST00000464463.6:n.1815C>G | ||
| ENST00000490265.6:n.2181C>G | ||
| ENST00000682237.1:c.*1212C>G | ENSP00000507121.1:n.*1212C>G | |
| ENST00000682562.1:c.*3054C>G | ENSP00000507874.1:n.*3054C>G | |
| ENST00000682953.1:c.*2379C>G | ENSP00000507878.1:n.*2379C>G | |
| ENST00000683055.1:c.*967C>G | ENSP00000508191.1:n.*967C>G | |
| ENST00000683284.1:c.*1883C>G | ENSP00000507837.1:n.*1883C>G | |
| ENST00000683427.1:c.*311+656C>G | ENSP00000507290.1:n.*311+656C>G | |
| ENST00000683454.1:n.1666C>G | ||
| ENST00000683637.1:n.2761C>G | ||
| ENST00000683655.1:c.*1866C>G | ENSP00000506770.1:n.*1866C>G | |
| ENST00000683713.1:c.*1883C>G | ENSP00000507797.1:n.*1883C>G | |
| ENST00000684577.1:c.*1349C>G | ENSP00000507871.1:n.*1349C>G | |
| ENST00000340096.11:c.1652C>G MANE Select | ENSP00000344314.6:p.Thr551Arg | |
| ENST00000340096.10:c.1652C>G | ENSP00000344314.6:p.Thr551Arg | |
| ENST00000380550.6:c.1532C>G | ENSP00000369923.3:p.Thr511Arg | |
| ENST00000380567.5:c.1232C>G | ENSP00000369941.1:p.Thr411Arg | |
| ENST00000398395.7:c.1011+656C>G | ENSP00000381432.4:n.1011+656C>G | |
| ENST00000490265.5:n.2627C>G | ||
| NM_003611.2:c.1652C>G | NP_003602.1:p.Thr551Arg | |
| XM_005274599.2:c.1673C>G | XP_005274656.1:p.Thr558Arg | |
| XM_005274602.2:c.1673C>G | XP_005274659.1:p.Thr558Arg | |
| XM_005274603.2:c.1553C>G | XP_005274660.1:p.Thr518Arg | |
| XM_005274604.2:c.1532C>G | XP_005274661.1:p.Thr511Arg | |
| XM_005274606.2:c.1508C>G | XP_005274663.1:p.Thr503Arg | |
| XM_005274607.3:c.1232C>G | XP_005274664.1:p.Thr411Arg | |
| XM_011545591.1:c.1673C>G | XP_011543893.1:p.Thr558Arg | |
| XM_011545592.1:c.1460C>G | XP_011543894.1:p.Thr487Arg | |
| XM_011545593.1:c.1673C>G | XP_011543895.1:p.Thr558Arg | |
| XM_011545594.1:c.1331C>G | XP_011543896.1:p.Thr444Arg | |
| XM_011545595.1:c.1331C>G | XP_011543897.1:p.Thr444Arg | |
| XM_011545596.1:c.1673C>G | XP_011543898.1:p.Thr558Arg | |
| XM_011545597.1:c.1232C>G | XP_011543899.1:p.Thr411Arg | |
| XM_011545598.1:c.377C>G | XP_011543900.1:p.Thr126Arg | |
| XR_247288.2:n.2012C>G | ||
| NM_001330209.1:c.1532C>G | NP_001317138.1:p.Thr511Arg | |
| NM_001330210.1:c.1232C>G | NP_001317139.1:p.Thr411Arg | |
| XM_005274606.4:c.1508C>G | XP_005274663.1:p.Thr503Arg | |
| XM_011545592.3:c.1460C>G | XP_011543894.1:p.Thr487Arg | |
| XM_011545594.3:c.1331C>G | XP_011543896.1:p.Thr444Arg | |
| XM_011545597.2:c.1232C>G | XP_011543899.1:p.Thr411Arg | |
| XM_017029909.1:c.1232C>G | XP_016885398.1:p.Thr411Arg | |
| XM_017029911.1:c.710C>G | XP_016885400.1:p.Thr237Arg | |
| XM_024452468.1:c.377C>G | XP_024308236.1:p.Thr126Arg | |
| XM_024452469.1:c.377C>G | XP_024308237.1:p.Thr126Arg | |
| XM_024452470.1:c.377C>G | XP_024308238.1:p.Thr126Arg | |
| XM_024452471.1:c.377C>G | XP_024308239.1:p.Thr126Arg | |
| NM_003611.3:c.1652C>G MANE Select | NP_003602.1:p.Thr551Arg | |
| NM_001330209.2:c.1532C>G | NP_001317138.1:p.Thr511Arg | |
| NM_001330210.2:c.1232C>G | NP_001317139.1:p.Thr411Arg |