Linked Data
ClinVar Variation Id:
1656578
ClinVar RCV Id:
RCV002161888
dbSNP Id:
rs1471646541
gnomAD v2:
11-17417234-G-A
gnomAD v4:
11-17395687-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17395687G>A , CM000673.2:g.17395687G>A | GRCh38 |
| NC_000011.9:g.17417234G>A , CM000673.1:g.17417234G>A | GRCh37 |
| NC_000011.8:g.17373810G>A | NCBI36 |
| NG_008867.1:g.86216C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.3831C>T | ||
| ENST00000528374.2:c.821C>T | ||
| ENST00000529967.6:n.2569C>T | ||
| ENST00000532220.2:n.3463C>T | ||
| ENST00000642611.2:n.5563C>T | ||
| ENST00000644057.2:n.806C>T | ||
| ENST00000645004.2:n.1729C>T | ||
| ENST00000682051.1:n.4392C>T | ||
| ENST00000682110.1:n.4445C>T | ||
| ENST00000682140.1:c.*16C>T | ENSP00000507829.1:n.*16C>T | |
| ENST00000682185.1:n.5535C>T | ||
| ENST00000682204.1:c.*2368C>T | ENSP00000507094.1:n.*2368C>T | |
| ENST00000682215.1:n.4812C>T | ||
| ENST00000682288.1:c.*2661C>T | ENSP00000507506.1:n.*2661C>T | |
| ENST00000682442.1:n.4665C>T | ||
| ENST00000682528.1:n.4522C>T | ||
| ENST00000682673.1:n.4389C>T | ||
| ENST00000682805.1:n.4850C>T | ||
| ENST00000682965.1:c.*652C>T | ENSP00000508229.1:n.*652C>T | |
| ENST00000683093.1:n.5529C>T | ||
| ENST00000683136.1:c.4113C>T | ENSP00000507768.1:p.Ala1371= | |
| ENST00000683153.1:n.4487C>T | ||
| ENST00000683365.1:n.4547C>T | ||
| ENST00000683377.1:n.4445C>T | ||
| ENST00000683456.1:c.*1367C>T | ENSP00000508318.1:n.*1367C>T | |
| ENST00000683522.1:n.4445C>T | ||
| ENST00000683562.1:c.*2399C>T | ENSP00000508265.1:n.*2399C>T | |
| ENST00000683693.1:n.6010C>T | ||
| ENST00000683725.1:c.4230C>T | ENSP00000507496.1:p.Ala1410= | |
| ENST00000684010.1:n.4440C>T | ||
| ENST00000684157.1:n.5430C>T | ||
| ENST00000684253.1:n.4348C>T | ||
| ENST00000684288.1:c.*2402C>T | ENSP00000507143.1:n.*2402C>T | |
| ENST00000684313.1:n.3877C>T | ||
| ENST00000684332.1:n.4518C>T | ||
| ENST00000684371.1:n.4551C>T | ||
| ENST00000684404.1:n.5473C>T | ||
| ENST00000684442.1:n.4669C>T | ||
| ENST00000684555.1:c.*2442C>T | ENSP00000507705.1:n.*2442C>T | |
| ENST00000684571.1:c.4071C>T | ENSP00000506935.1:p.Ala1357= | |
| ENST00000684593.1:c.*3935C>T | ENSP00000507005.1:n.*3935C>T | |
| ENST00000684711.1:c.*2626C>T | ENSP00000506841.1:n.*2626C>T | |
| ENST00000302539.9:c.4233C>T | ENSP00000303960.4:p.Ala1411= | |
| ENST00000389817.8:c.4230C>T MANE Select | ENSP00000374467.4:p.Ala1410= | |
| ENST00000642271.1:c.4227C>T | ENSP00000493749.1:p.Ala1409= | |
| ENST00000642579.1:c.2284C>T | ||
| ENST00000642611.1:n.5448C>T | ||
| ENST00000642902.1:c.4012C>T | ||
| ENST00000643260.1:c.4230C>T | ENSP00000494450.1:p.Ala1410= | |
| ENST00000643562.1:c.*2352C>T | ENSP00000496124.1:n.*2352C>T | |
| ENST00000643925.1:c.2870C>T | ||
| ENST00000644057.1:n.307C>T | ||
| ENST00000644484.1:c.*3616C>T | ENSP00000493558.1:n.*3616C>T | |
| ENST00000644675.1:c.*2402C>T | ENSP00000494567.1:n.*2402C>T | |
| ENST00000644757.1:c.*3202+577C>T | ENSP00000495085.1:n.*3202+577C>T | |
| ENST00000644772.1:c.4296C>T | ENSP00000494321.1:p.Ala1432= | |
| ENST00000645004.1:n.1923C>T | ||
| ENST00000645076.1:c.3429C>T | ||
| ENST00000645417.1:c.1418C>T | ||
| ENST00000645744.1:c.*3964-49C>T | ENSP00000494564.1:n.*3964-49C>T | |
| ENST00000645760.1:c.4651C>T | ||
| ENST00000645884.1:c.*1513C>T | ENSP00000495516.1:n.*1513C>T | |
| ENST00000646003.1:c.*2301-49C>T | ENSP00000495259.1:n.*2301-49C>T | |
| ENST00000646207.1:c.*3067C>T | ENSP00000495025.1:n.*3067C>T | |
| ENST00000646276.1:c.*3634C>T | ENSP00000496070.1:n.*3634C>T | |
| ENST00000646592.1:c.3536C>T | ||
| ENST00000646902.1:c.4197C>T | ENSP00000494101.1:p.Ala1399= | |
| ENST00000646993.1:c.*2772C>T | ENSP00000493720.1:n.*2772C>T | |
| ENST00000647013.1:c.4236C>T | ENSP00000496741.1:n.4236C>T | |
| ENST00000647015.1:c.3981C>T | ENSP00000495389.1:p.Ala1327= | |
| ENST00000647086.1:c.*3816C>T | ENSP00000493677.1:n.*3816C>T | |
| ENST00000647158.1:c.*2517C>T | ENSP00000495744.1:n.*2517C>T | |
| ENST00000302539.8:c.4233C>T | ENSP00000303960.4:p.Ala1411= | |
| ENST00000389817.7:c.4230C>T | ENSP00000374467.3:p.Ala1410= | |
| ENST00000525022.1:n.229C>T | ||
| ENST00000526037.5:n.94C>T | ||
| ENST00000526168.5:c.67-49C>T | ||
| ENST00000531642.5:c.66C>T | ||
| NM_000352.4:c.4230C>T | NP_000343.2:p.Ala1410= | |
| NM_001287174.1:c.4233C>T | NP_001274103.1:p.Ala1411= | |
| XM_011520331.1:c.4230C>T | XP_011518633.1:p.Ala1410= | |
| XM_011520332.1:c.4233C>T | XP_011518634.1:p.Ala1411= | |
| XM_011520333.1:c.2730C>T | XP_011518635.1:p.Ala910= | |
| XR_930890.1:n.4296C>T | ||
| NM_001351295.1:c.4296C>T | NP_001338224.1:p.Ala1432= | |
| NM_001351296.1:c.4230C>T | NP_001338225.1:p.Ala1410= | |
| NM_001351297.1:c.4227C>T | NP_001338226.1:p.Ala1409= | |
| NR_147094.1:n.4525C>T | ||
| XM_017018197.2:c.4299C>T | XP_016873686.1:p.Ala1433= | |
| XM_017018199.1:c.4296C>T | XP_016873688.1:p.Ala1432= | |
| XM_017018201.2:c.4299C>T | XP_016873690.1:p.Ala1433= | |
| XM_017018202.1:c.2796C>T | XP_016873691.1:p.Ala932= | |
| XM_017018204.1:c.2187C>T | XP_016873693.1:p.Ala729= | |
| XM_024448668.1:c.2598C>T | XP_024304436.1:p.Ala866= | |
| XR_001747945.2:n.4371C>T | ||
| XR_001747946.2:n.4302C>T | ||
| XR_002957189.1:n.6085C>T | ||
| NM_000352.6:c.4230C>T MANE Select | NP_000343.2:p.Ala1410= | |
| NM_001287174.2:c.4233C>T | NP_001274103.1:p.Ala1411= | |
| NM_001351295.2:c.4296C>T | NP_001338224.1:p.Ala1432= | |
| NM_001351296.2:c.4230C>T | NP_001338225.1:p.Ala1410= | |
| NM_001351297.2:c.4227C>T | NP_001338226.1:p.Ala1409= | |
| NR_147094.2:n.4525C>T | ||
| NM_001287174.3:c.4233C>T | NP_001274103.1:p.Ala1411= |