Linked Data
ClinVar Variation Id:
1145565
ClinVar RCV Id:
RCV001484469
dbSNP Id:
rs776060408
ExAC:
11:17450193 C / G
gnomAD v2:
11-17450193-C-G
gnomAD v4:
11-17428646-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17428646C>G , CM000673.2:g.17428646C>G | GRCh38 |
| NC_000011.9:g.17450193C>G , CM000673.1:g.17450193C>G | GRCh37 |
| NC_000011.8:g.17406769C>G | NCBI36 |
| NG_008867.1:g.53257G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.1511G>C | ||
| ENST00000642611.2:n.1908G>C | ||
| ENST00000682051.1:n.1855G>C | ||
| ENST00000682110.1:n.1908G>C | ||
| ENST00000682140.1:c.1839G>C | ENSP00000507829.1:p.Leu613= | |
| ENST00000682185.1:n.3147G>C | ||
| ENST00000682204.1:c.1693G>C | ENSP00000507094.1:p.Val565Leu | |
| ENST00000682215.1:n.1908G>C | ||
| ENST00000682288.1:c.*270G>C | ENSP00000507506.1:n.*270G>C | |
| ENST00000682442.1:n.2029G>C | ||
| ENST00000682528.1:n.1908G>C | ||
| ENST00000682673.1:n.1855G>C | ||
| ENST00000682805.1:n.1908G>C | ||
| ENST00000682965.1:c.1839G>C | ENSP00000508229.1:p.Leu613= | |
| ENST00000683093.1:n.2010G>C | ||
| ENST00000683136.1:c.1839G>C | ENSP00000507768.1:p.Leu613= | |
| ENST00000683153.1:n.1908G>C | ||
| ENST00000683253.1:n.2924G>C | ||
| ENST00000683365.1:n.2010G>C | ||
| ENST00000683377.1:n.1908G>C | ||
| ENST00000683456.1:c.1839G>C | ENSP00000508318.1:p.Leu613= | |
| ENST00000683522.1:n.1908G>C | ||
| ENST00000683562.1:c.*11G>C | ENSP00000508265.1:n.*11G>C | |
| ENST00000683693.1:n.1908G>C | ||
| ENST00000683725.1:c.1842G>C | ENSP00000507496.1:p.Leu614= | |
| ENST00000684010.1:n.1908G>C | ||
| ENST00000684157.1:n.1908G>C | ||
| ENST00000684253.1:n.1814G>C | ||
| ENST00000684288.1:c.*11G>C | ENSP00000507143.1:n.*11G>C | |
| ENST00000684313.1:n.1724-11684G>C | ||
| ENST00000684332.1:n.1981G>C | ||
| ENST00000684371.1:n.1855G>C | ||
| ENST00000684404.1:n.1908G>C | ||
| ENST00000684442.1:n.1908G>C | ||
| ENST00000684555.1:c.*51G>C | ENSP00000507705.1:n.*51G>C | |
| ENST00000684571.1:c.1683G>C | ENSP00000506935.1:p.Leu561= | |
| ENST00000684593.1:c.*1547G>C | ENSP00000507005.1:n.*1547G>C | |
| ENST00000684711.1:c.*238G>C | ENSP00000506841.1:n.*238G>C | |
| ENST00000302539.9:c.1842G>C | ENSP00000303960.4:p.Leu614= | |
| ENST00000389817.8:c.1842G>C MANE Select | ENSP00000374467.4:p.Leu614= | |
| ENST00000532728.6:c.1423G>C | ||
| ENST00000642271.1:c.1839G>C | ENSP00000493749.1:p.Leu613= | |
| ENST00000642611.1:n.1793G>C | ||
| ENST00000642902.1:c.1677G>C | ||
| ENST00000643260.1:c.1839G>C | ENSP00000494450.1:p.Leu613= | |
| ENST00000643562.1:c.1842G>C | ENSP00000496124.1:p.Leu614= | |
| ENST00000644447.1:c.195G>C | ENSP00000496282.1:p.Leu65= | |
| ENST00000644472.1:c.*203G>C | ENSP00000495378.1:n.*203G>C | |
| ENST00000644484.1:c.*51G>C | ENSP00000493558.1:n.*51G>C | |
| ENST00000644542.1:c.*1544G>C | ENSP00000495532.1:n.*1544G>C | |
| ENST00000644649.1:c.1012G>C | ||
| ENST00000644675.1:c.*11G>C | ENSP00000494567.1:n.*11G>C | |
| ENST00000644757.1:c.*144G>C | ENSP00000495085.1:n.*144G>C | |
| ENST00000644772.1:c.1842G>C | ENSP00000494321.1:p.Leu614= | |
| ENST00000645076.1:c.1100-6G>C | ||
| ENST00000645744.1:c.*203G>C | ENSP00000494564.1:n.*203G>C | |
| ENST00000645760.1:c.2117G>C | ||
| ENST00000645884.1:c.1839G>C | ENSP00000495516.1:p.Leu613= | |
| ENST00000646003.1:c.1693G>C | ENSP00000495259.1:p.Val565Leu | |
| ENST00000646207.1:c.*203G>C | ENSP00000495025.1:n.*203G>C | |
| ENST00000646276.1:c.*112G>C | ENSP00000496070.1:n.*112G>C | |
| ENST00000646592.1:c.906G>C | ||
| ENST00000646902.1:c.1839G>C | ENSP00000494101.1:p.Leu613= | |
| ENST00000646993.1:c.*238G>C | ENSP00000493720.1:n.*238G>C | |
| ENST00000647013.1:c.1845G>C | ENSP00000496741.1:n.1845G>C | |
| ENST00000647015.1:c.1672-241G>C | ENSP00000495389.1:n.1672-241G>C | |
| ENST00000647086.1:c.*1569G>C | ENSP00000493677.1:n.*1569G>C | |
| ENST00000647158.1:c.1693G>C | ENSP00000495744.1:p.Val565Leu | |
| ENST00000302539.8:c.1842G>C | ENSP00000303960.4:p.Leu614= | |
| ENST00000389817.7:c.1842G>C | ENSP00000374467.3:p.Leu614= | |
| ENST00000527905.5:c.1818-6G>C | ENSP00000431653.1:n.1818-6G>C | |
| NM_000352.4:c.1842G>C | NP_000343.2:p.Leu614= | |
| NM_001287174.1:c.1842G>C | NP_001274103.1:p.Leu614= | |
| XM_011520331.1:c.1839G>C | XP_011518633.1:p.Leu613= | |
| XM_011520332.1:c.1842G>C | XP_011518634.1:p.Leu614= | |
| XM_011520333.1:c.339G>C | XP_011518635.1:p.Leu113= | |
| XM_011520334.1:c.1842G>C | XP_011518636.1:p.Leu614= | |
| XR_930890.1:n.1905G>C | ||
| XR_930891.1:n.1905G>C | ||
| XR_930892.1:n.1905G>C | ||
| XR_930893.1:n.1905G>C | ||
| NM_001351295.1:c.1842G>C | NP_001338224.1:p.Leu614= | |
| NM_001351296.1:c.1839G>C | NP_001338225.1:p.Leu613= | |
| NM_001351297.1:c.1839G>C | NP_001338226.1:p.Leu613= | |
| NR_147094.1:n.1908G>C | ||
| XM_017018197.2:c.1842G>C | XP_016873686.1:p.Leu614= | |
| XM_017018199.1:c.1839G>C | XP_016873688.1:p.Leu613= | |
| XM_017018201.2:c.1842G>C | XP_016873690.1:p.Leu614= | |
| XM_017018202.1:c.339G>C | XP_016873691.1:p.Leu113= | |
| XM_017018204.1:c.-202G>C | XP_016873693.1:n.-202G>C | |
| XM_024448668.1:c.207G>C | XP_024304436.1:p.Leu69= | |
| XR_001747945.2:n.1914G>C | ||
| XR_001747946.2:n.1914G>C | ||
| XR_002957189.1:n.1914G>C | ||
| NM_000352.6:c.1842G>C MANE Select | NP_000343.2:p.Leu614= | |
| NM_001287174.2:c.1842G>C | NP_001274103.1:p.Leu614= | |
| NM_001351295.2:c.1842G>C | NP_001338224.1:p.Leu614= | |
| NM_001351296.2:c.1839G>C | NP_001338225.1:p.Leu613= | |
| NM_001351297.2:c.1839G>C | NP_001338226.1:p.Leu613= | |
| NR_147094.2:n.1908G>C | ||
| NM_001287174.3:c.1842G>C | NP_001274103.1:p.Leu614= |