Linked Data
ClinVar Variation Id:
157686
ClinVar RCV Id:
RCV000144981
RCV000286519
RCV000378609
RCV000576654
RCV001533247
RCV001272235
RCV001533246
RCV001512802
RCV002226678
dbSNP Id:
rs1799858
ExAC:
11:17449929 C / T
gnomAD v2:
11-17449929-C-T
gnomAD v3:
11-17428382-C-T
gnomAD v4:
11-17428382-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17428382C>T , CM000673.2:g.17428382C>T | GRCh38 |
| NC_000011.9:g.17449929C>T , CM000673.1:g.17449929C>T | GRCh37 |
| NC_000011.8:g.17406505C>T | NCBI36 |
| NG_008867.1:g.53521G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.1616G>A | ||
| ENST00000529967.6:n.206G>A | ||
| ENST00000642611.2:n.2013G>A | ||
| ENST00000682051.1:n.1960G>A | ||
| ENST00000682110.1:n.2013G>A | ||
| ENST00000682140.1:c.1944G>A | ENSP00000507829.1:p.Lys648= | |
| ENST00000682185.1:n.3252G>A | ||
| ENST00000682204.1:c.*85G>A | ENSP00000507094.1:n.*85G>A | |
| ENST00000682215.1:n.2013G>A | ||
| ENST00000682288.1:c.*375G>A | ENSP00000507506.1:n.*375G>A | |
| ENST00000682442.1:n.2134G>A | ||
| ENST00000682528.1:n.2013G>A | ||
| ENST00000682673.1:n.1960G>A | ||
| ENST00000682805.1:n.2013G>A | ||
| ENST00000682965.1:c.1944G>A | ENSP00000508229.1:p.Lys648= | |
| ENST00000683093.1:n.2115G>A | ||
| ENST00000683136.1:c.1944G>A | ENSP00000507768.1:p.Lys648= | |
| ENST00000683153.1:n.2172G>A | ||
| ENST00000683253.1:n.3029G>A | ||
| ENST00000683365.1:n.2115G>A | ||
| ENST00000683377.1:n.2013G>A | ||
| ENST00000683456.1:c.1944G>A | ENSP00000508318.1:p.Lys648= | |
| ENST00000683522.1:n.2013G>A | ||
| ENST00000683562.1:c.*116G>A | ENSP00000508265.1:n.*116G>A | |
| ENST00000683693.1:n.2013G>A | ||
| ENST00000683725.1:c.1947G>A | ENSP00000507496.1:p.Lys649= | |
| ENST00000684010.1:n.2013G>A | ||
| ENST00000684157.1:n.2013G>A | ||
| ENST00000684253.1:n.1919G>A | ||
| ENST00000684288.1:c.*116G>A | ENSP00000507143.1:n.*116G>A | |
| ENST00000684313.1:n.1724-11420G>A | ||
| ENST00000684332.1:n.2086G>A | ||
| ENST00000684371.1:n.2119G>A | ||
| ENST00000684404.1:n.2013G>A | ||
| ENST00000684442.1:n.2013G>A | ||
| ENST00000684555.1:c.*156G>A | ENSP00000507705.1:n.*156G>A | |
| ENST00000684571.1:c.1788G>A | ENSP00000506935.1:p.Lys596= | |
| ENST00000684593.1:c.*1652G>A | ENSP00000507005.1:n.*1652G>A | |
| ENST00000684711.1:c.*343G>A | ENSP00000506841.1:n.*343G>A | |
| ENST00000302539.9:c.1947G>A | ENSP00000303960.4:p.Lys649= | |
| ENST00000389817.8:c.1947G>A MANE Select | ENSP00000374467.4:p.Lys649= | |
| ENST00000532728.6:c.1528G>A | ||
| ENST00000642271.1:c.1944G>A | ENSP00000493749.1:p.Lys648= | |
| ENST00000642579.1:c.28G>A | ||
| ENST00000642611.1:n.1898G>A | ||
| ENST00000642902.1:c.1782G>A | ||
| ENST00000643260.1:c.1944G>A | ENSP00000494450.1:p.Lys648= | |
| ENST00000643562.1:c.1939G>A | ENSP00000496124.1:p.Ala647Thr | |
| ENST00000644447.1:c.300G>A | ENSP00000496282.1:p.Lys100= | |
| ENST00000644472.1:c.*308G>A | ENSP00000495378.1:n.*308G>A | |
| ENST00000644484.1:c.*156G>A | ENSP00000493558.1:n.*156G>A | |
| ENST00000644542.1:c.*1649G>A | ENSP00000495532.1:n.*1649G>A | |
| ENST00000644649.1:c.1117G>A | ||
| ENST00000644675.1:c.*116G>A | ENSP00000494567.1:n.*116G>A | |
| ENST00000644757.1:c.*249G>A | ENSP00000495085.1:n.*249G>A | |
| ENST00000644772.1:c.2013G>A | ENSP00000494321.1:p.Lys671= | |
| ENST00000645076.1:c.1199G>A | ||
| ENST00000645744.1:c.*308G>A | ENSP00000494564.1:n.*308G>A | |
| ENST00000645760.1:c.2222G>A | ||
| ENST00000645884.1:c.1944G>A | ENSP00000495516.1:p.Lys648= | |
| ENST00000646003.1:c.*85G>A | ENSP00000495259.1:n.*85G>A | |
| ENST00000646207.1:c.*308G>A | ENSP00000495025.1:n.*308G>A | |
| ENST00000646276.1:c.*217G>A | ENSP00000496070.1:n.*217G>A | |
| ENST00000646592.1:c.1170G>A | ||
| ENST00000646902.1:c.1944G>A | ENSP00000494101.1:p.Lys648= | |
| ENST00000646993.1:c.*343G>A | ENSP00000493720.1:n.*343G>A | |
| ENST00000647013.1:c.1950G>A | ENSP00000496741.1:n.1950G>A | |
| ENST00000647015.1:c.1695G>A | ENSP00000495389.1:p.Lys565= | |
| ENST00000647086.1:c.*1674G>A | ENSP00000493677.1:n.*1674G>A | |
| ENST00000647158.1:c.*85G>A | ENSP00000495744.1:n.*85G>A | |
| ENST00000302539.8:c.1947G>A | ENSP00000303960.4:p.Lys649= | |
| ENST00000389817.7:c.1947G>A | ENSP00000374467.3:p.Lys649= | |
| ENST00000527905.5:c.1917G>A | ENSP00000431653.1:p.Lys639= | |
| NM_000352.4:c.1947G>A | NP_000343.2:p.Lys649= | |
| NM_001287174.1:c.1947G>A | NP_001274103.1:p.Lys649= | |
| XM_011520331.1:c.1944G>A | XP_011518633.1:p.Lys648= | |
| XM_011520332.1:c.1947G>A | XP_011518634.1:p.Lys649= | |
| XM_011520333.1:c.444G>A | XP_011518635.1:p.Lys148= | |
| XM_011520334.1:c.1947G>A | XP_011518636.1:p.Lys649= | |
| XR_930890.1:n.2010G>A | ||
| XR_930891.1:n.2010G>A | ||
| XR_930892.1:n.2010G>A | ||
| XR_930893.1:n.2010G>A | ||
| NM_001351295.1:c.2013G>A | NP_001338224.1:p.Lys671= | |
| NM_001351296.1:c.1944G>A | NP_001338225.1:p.Lys648= | |
| NM_001351297.1:c.1944G>A | NP_001338226.1:p.Lys648= | |
| NR_147094.1:n.2013G>A | ||
| XM_017018197.2:c.2013G>A | XP_016873686.1:p.Lys671= | |
| XM_017018199.1:c.2010G>A | XP_016873688.1:p.Lys670= | |
| XM_017018201.2:c.2013G>A | XP_016873690.1:p.Lys671= | |
| XM_017018202.1:c.510G>A | XP_016873691.1:p.Lys170= | |
| XM_017018204.1:c.-97G>A | XP_016873693.1:n.-97G>A | |
| XM_024448668.1:c.312G>A | XP_024304436.1:p.Lys104= | |
| XR_001747945.2:n.2085G>A | ||
| XR_001747946.2:n.2019G>A | ||
| XR_002957189.1:n.2085G>A | ||
| NM_000352.6:c.1947G>A MANE Select | NP_000343.2:p.Lys649= | |
| NM_001287174.2:c.1947G>A | NP_001274103.1:p.Lys649= | |
| NM_001351295.2:c.2013G>A | NP_001338224.1:p.Lys671= | |
| NM_001351296.2:c.1944G>A | NP_001338225.1:p.Lys648= | |
| NM_001351297.2:c.1944G>A | NP_001338226.1:p.Lys648= | |
| NR_147094.2:n.2013G>A | ||
| NM_001287174.3:c.1947G>A | NP_001274103.1:p.Lys649= |