Linked Data
dbSNP Id:
rs764564274
ExAC:
11:17418562 G / C
gnomAD v2:
11-17418562-G-C
gnomAD v3:
11-17397015-G-C
gnomAD v4:
11-17397015-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17397015G>C , CM000673.2:g.17397015G>C | GRCh38 |
| NC_000011.9:g.17418562G>C , CM000673.1:g.17418562G>C | GRCh37 |
| NC_000011.8:g.17375138G>C | NCBI36 |
| NG_008867.1:g.84888C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.3621C>G | ||
| ENST00000528374.2:c.611C>G | ||
| ENST00000529967.6:n.2359C>G | ||
| ENST00000532220.2:n.2268C>G | ||
| ENST00000642611.2:n.4235C>G | ||
| ENST00000644057.2:n.463C>G | ||
| ENST00000645004.2:n.1519C>G | ||
| ENST00000682051.1:n.4182C>G | ||
| ENST00000682110.1:n.4235C>G | ||
| ENST00000682140.1:c.3985+178C>G | ENSP00000507829.1:n.3985+178C>G | |
| ENST00000682185.1:n.5325C>G | ||
| ENST00000682204.1:c.*2158C>G | ENSP00000507094.1:n.*2158C>G | |
| ENST00000682215.1:n.4602C>G | ||
| ENST00000682288.1:c.*2451C>G | ENSP00000507506.1:n.*2451C>G | |
| ENST00000682442.1:n.4455C>G | ||
| ENST00000682528.1:n.4312C>G | ||
| ENST00000682673.1:n.4179C>G | ||
| ENST00000682805.1:n.4602C>G | ||
| ENST00000682965.1:c.*442C>G | ENSP00000508229.1:n.*442C>G | |
| ENST00000683093.1:n.4334C>G | ||
| ENST00000683136.1:c.3903C>G | ENSP00000507768.1:p.Asp1301Glu | |
| ENST00000683153.1:n.4277C>G | ||
| ENST00000683365.1:n.4337C>G | ||
| ENST00000683377.1:n.4235C>G | ||
| ENST00000683456.1:c.*1157C>G | ENSP00000508318.1:n.*1157C>G | |
| ENST00000683522.1:n.4235C>G | ||
| ENST00000683562.1:c.*2189C>G | ENSP00000508265.1:n.*2189C>G | |
| ENST00000683693.1:n.4682C>G | ||
| ENST00000683725.1:c.4020C>G | ENSP00000507496.1:p.Asp1340Glu | |
| ENST00000684010.1:n.4230C>G | ||
| ENST00000684157.1:n.4235C>G | ||
| ENST00000684253.1:n.4138C>G | ||
| ENST00000684288.1:c.*2192C>G | ENSP00000507143.1:n.*2192C>G | |
| ENST00000684313.1:n.3667C>G | ||
| ENST00000684332.1:n.4308C>G | ||
| ENST00000684371.1:n.4341C>G | ||
| ENST00000684404.1:n.4278C>G | ||
| ENST00000684442.1:n.4459C>G | ||
| ENST00000684555.1:c.*2232C>G | ENSP00000507705.1:n.*2232C>G | |
| ENST00000684571.1:c.3861C>G | ENSP00000506935.1:p.Asp1287Glu | |
| ENST00000684593.1:c.*3725C>G | ENSP00000507005.1:n.*3725C>G | |
| ENST00000684711.1:c.*2416C>G | ENSP00000506841.1:n.*2416C>G | |
| ENST00000302539.9:c.4023C>G | ENSP00000303960.4:p.Asp1341Glu | |
| ENST00000389817.8:c.4020C>G MANE Select | ENSP00000374467.4:p.Asp1340Glu | |
| ENST00000642271.1:c.4017C>G | ENSP00000493749.1:p.Asp1339Glu | |
| ENST00000642579.1:c.2074C>G | ||
| ENST00000642611.1:n.4120C>G | ||
| ENST00000642902.1:c.3802C>G | ||
| ENST00000643260.1:c.4020C>G | ENSP00000494450.1:p.Asp1340Glu | |
| ENST00000643562.1:c.*2142C>G | ENSP00000496124.1:n.*2142C>G | |
| ENST00000643925.1:c.2660C>G | ||
| ENST00000644057.1:n.97C>G | ||
| ENST00000644484.1:c.*2421C>G | ENSP00000493558.1:n.*2421C>G | |
| ENST00000644675.1:c.*2192C>G | ENSP00000494567.1:n.*2192C>G | |
| ENST00000644757.1:c.*2451C>G | ENSP00000495085.1:n.*2451C>G | |
| ENST00000644772.1:c.4086C>G | ENSP00000494321.1:p.Asp1362Glu | |
| ENST00000645004.1:n.1675C>G | ||
| ENST00000645076.1:c.3219C>G | ||
| ENST00000645417.1:c.1208C>G | ||
| ENST00000645744.1:c.*2800C>G | ENSP00000494564.1:n.*2800C>G | |
| ENST00000645760.1:c.4441C>G | ||
| ENST00000645884.1:c.*1303C>G | ENSP00000495516.1:n.*1303C>G | |
| ENST00000646003.1:c.*2122C>G | ENSP00000495259.1:n.*2122C>G | |
| ENST00000646207.1:c.*2857C>G | ENSP00000495025.1:n.*2857C>G | |
| ENST00000646276.1:c.*2439C>G | ENSP00000496070.1:n.*2439C>G | |
| ENST00000646592.1:c.3326C>G | ||
| ENST00000646902.1:c.3987C>G | ENSP00000494101.1:p.Asp1329Glu | |
| ENST00000646993.1:c.*2562C>G | ENSP00000493720.1:n.*2562C>G | |
| ENST00000647013.1:c.4026C>G | ENSP00000496741.1:n.4026C>G | |
| ENST00000647015.1:c.3771C>G | ENSP00000495389.1:p.Asp1257Glu | |
| ENST00000647086.1:c.*3606C>G | ENSP00000493677.1:n.*3606C>G | |
| ENST00000647158.1:c.*2307C>G | ENSP00000495744.1:n.*2307C>G | |
| ENST00000302539.8:c.4023C>G | ENSP00000303960.4:p.Asp1341Glu | |
| ENST00000389817.7:c.4020C>G | ENSP00000374467.3:p.Asp1340Glu | |
| ENST00000527905.5:c.*1042C>G | ENSP00000431653.1:n.*1042C>G | |
| ENST00000528374.1:c.502C>G | ||
| ENST00000531137.1:n.585C>G | ||
| ENST00000531891.1:c.358C>G | ||
| ENST00000532220.1:n.494C>G | ||
| NM_000352.4:c.4020C>G | NP_000343.2:p.Asp1340Glu | |
| NM_001287174.1:c.4023C>G | NP_001274103.1:p.Asp1341Glu | |
| XM_011520331.1:c.4020C>G | XP_011518633.1:p.Asp1340Glu | |
| XM_011520332.1:c.4023C>G | XP_011518634.1:p.Asp1341Glu | |
| XM_011520333.1:c.2520C>G | XP_011518635.1:p.Asp840Glu | |
| XR_930890.1:n.4086C>G | ||
| NM_001351295.1:c.4086C>G | NP_001338224.1:p.Asp1362Glu | |
| NM_001351296.1:c.4020C>G | NP_001338225.1:p.Asp1340Glu | |
| NM_001351297.1:c.4017C>G | NP_001338226.1:p.Asp1339Glu | |
| NR_147094.1:n.4315C>G | ||
| XM_017018197.2:c.4089C>G | XP_016873686.1:p.Asp1363Glu | |
| XM_017018199.1:c.4086C>G | XP_016873688.1:p.Asp1362Glu | |
| XM_017018201.2:c.4089C>G | XP_016873690.1:p.Asp1363Glu | |
| XM_017018202.1:c.2586C>G | XP_016873691.1:p.Asp862Glu | |
| XM_017018204.1:c.1977C>G | XP_016873693.1:p.Asp659Glu | |
| XM_024448668.1:c.2388C>G | XP_024304436.1:p.Asp796Glu | |
| XR_001747945.2:n.4161C>G | ||
| XR_001747946.2:n.4092C>G | ||
| XR_002957189.1:n.4757C>G | ||
| NM_000352.6:c.4020C>G MANE Select | NP_000343.2:p.Asp1340Glu | |
| NM_001287174.2:c.4023C>G | NP_001274103.1:p.Asp1341Glu | |
| NM_001351295.2:c.4086C>G | NP_001338224.1:p.Asp1362Glu | |
| NM_001351296.2:c.4020C>G | NP_001338225.1:p.Asp1340Glu | |
| NM_001351297.2:c.4017C>G | NP_001338226.1:p.Asp1339Glu | |
| NR_147094.2:n.4315C>G | ||
| NM_001287174.3:c.4023C>G | NP_001274103.1:p.Asp1341Glu |