Linked Data
ClinVar Variation Id:
1315963
ClinVar RCV Id:
RCV001757410
dbSNP Id:
rs770966290
ExAC:
3:193355799 A / G
gnomAD v2:
3-193355799-A-G
gnomAD v3:
3-193638010-A-G
gnomAD v4:
3-193638010-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.193638010A>G , CM000665.2:g.193638010A>G | GRCh38 |
| NC_000003.11:g.193355799A>G , CM000665.1:g.193355799A>G | GRCh37 |
| NC_000003.10:g.194838493A>G | NCBI36 |
| NG_011605.1:g.49867A>G , LRG_337:g.49867A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361510.8:c.1094A>G MANE Select | ENSP00000355324.2:p.Gln365Arg | |
| ENST00000361828.7:c.929A>G | ENSP00000354429.3:p.Gln310Arg | |
| ENST00000361908.8:c.1040A>G | ENSP00000354681.3:p.Gln347Arg | |
| ENST00000392436.7:c.929A>G | ENSP00000376231.3:p.Gln310Arg | |
| ENST00000392437.6:c.983A>G | ENSP00000376232.2:p.Gln328Arg | |
| ENST00000642289.1:c.1024A>G | ||
| ENST00000642445.1:c.929A>G | ENSP00000495535.1:p.Gln310Arg | |
| ENST00000642593.1:c.929A>G | ENSP00000494273.1:p.Gln310Arg | |
| ENST00000643329.1:c.611A>G | ENSP00000493673.1:p.Gln204Arg | |
| ENST00000643737.1:c.*1010A>G | ENSP00000494210.1:n.*1010A>G | |
| ENST00000644595.1:c.929A>G | ENSP00000494121.1:p.Gln310Arg | |
| ENST00000644629.1:c.589A>G | ||
| ENST00000644841.1:c.557A>G | ENSP00000493988.1:p.Gln186Arg | |
| ENST00000644959.1:c.898A>G | ||
| ENST00000645553.1:c.944A>G | ENSP00000494725.1:p.Gln315Arg | |
| ENST00000646085.1:c.*407A>G | ENSP00000494509.1:n.*407A>G | |
| ENST00000646277.1:c.1094A>G | ENSP00000495289.1:p.Gln365Arg | |
| ENST00000646699.1:c.1024A>G | ||
| ENST00000646793.1:c.821A>G | ENSP00000494512.1:p.Gln274Arg | |
| ENST00000361150.6:c.932A>G | ENSP00000354781.2:p.Gln311Arg | |
| ENST00000361510.6:c.1094A>G | ENSP00000355324.2:p.Gln365Arg | |
| ENST00000361715.6:c.986A>G | ENSP00000355311.2:p.Gln329Arg | |
| ENST00000361828.6:c.983A>G | ENSP00000354429.2:p.Gln328Arg | |
| ENST00000361908.7:c.1040A>G | ENSP00000354681.3:p.Gln347Arg | |
| ENST00000392438.7:c.929A>G | ENSP00000376233.3:p.Gln310Arg | |
| ENST00000475899.1:n.125A>G | ||
| ENST00000495476.1:n.450A>G | ||
| ENST00000497189.5:n.415A>G | ||
| NM_015560.2:c.929A>G , LRG_337t1:c.929A>G | NP_056375.2:p.Gln310Arg | |
| NM_130831.2:c.821A>G | NP_570844.1:p.Gln274Arg | |
| NM_130832.2:c.875A>G | NP_570845.1:p.Gln292Arg | |
| NM_130833.2:c.932A>G | NP_570846.1:p.Gln311Arg | |
| NM_130834.2:c.983A>G | NP_570847.2:p.Gln328Arg | |
| NM_130835.2:c.986A>G | NP_570848.1:p.Gln329Arg | |
| NM_130836.2:c.1040A>G | NP_570849.2:p.Gln347Arg | |
| NM_130837.2:c.1094A>G , LRG_337t2:c.1094A>G | NP_570850.2:p.Gln365Arg | |
| XM_011512863.1:c.1094A>G | XP_011511165.1:p.Gln365Arg | |
| XM_011512864.1:c.1040A>G | XP_011511166.1:p.Gln347Arg | |
| XM_011512865.1:c.983A>G | XP_011511167.1:p.Gln328Arg | |
| XM_011512866.1:c.932A>G | XP_011511168.1:p.Gln311Arg | |
| XM_011512867.1:c.929A>G | XP_011511169.1:p.Gln310Arg | |
| XM_011512868.1:c.821A>G | XP_011511170.1:p.Gln274Arg | |
| XM_011512869.1:c.1094A>G | XP_011511171.1:p.Gln365Arg | |
| NM_001354663.1:c.560A>G | NP_001341592.1:p.Gln187Arg | |
| NM_001354664.1:c.557A>G | NP_001341593.1:p.Gln186Arg | |
| XR_001740158.2:n.1323A>G | ||
| XR_001740159.2:n.1158A>G | ||
| NM_001354663.2:c.560A>G | NP_001341592.1:p.Gln187Arg | |
| NM_001354664.2:c.557A>G | NP_001341593.1:p.Gln186Arg | |
| NM_130831.3:c.821A>G | NP_570844.1:p.Gln274Arg | |
| NM_130832.3:c.875A>G | NP_570845.1:p.Gln292Arg | |
| NM_130834.3:c.983A>G | NP_570847.2:p.Gln328Arg | |
| NM_130836.3:c.1040A>G | NP_570849.2:p.Gln347Arg | |
| NM_015560.3:c.929A>G | NP_056375.2:p.Gln310Arg | |
| NM_130833.3:c.932A>G | NP_570846.1:p.Gln311Arg | |
| NM_130835.3:c.986A>G | NP_570848.1:p.Gln329Arg | |
| NM_130837.3:c.1094A>G MANE Select | NP_570850.2:p.Gln365Arg |