Linked Data
ClinVar Variation Id:
303756
ClinVar RCV Id:
RCV000299357
RCV000340284
RCV000401324
RCV000501079
RCV000872611
RCV002246117
RCV002246116
RCV002374518
dbSNP Id:
rs138141427
ExAC:
11:17418753 G / A
gnomAD v2:
11-17418753-G-A
gnomAD v3:
11-17397206-G-A
gnomAD v4:
11-17397206-G-A
MyVariant Identifiers:
chr11:g.17418753G>A (hg19)
chr11:g.17418753_17418754delinsAT (hg19)
chr11:g.17397206G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17397206G>A , CM000673.2:g.17397206G>A | GRCh38 |
| NC_000011.9:g.17418753G>A , CM000673.1:g.17418753G>A | GRCh37 |
| NC_000011.8:g.17375329G>A | NCBI36 |
| NG_008867.1:g.84697C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.3430C>T | ||
| ENST00000528374.2:c.554C>T | ||
| ENST00000529967.6:n.2314C>T | ||
| ENST00000532220.2:n.2077C>T | ||
| ENST00000642611.2:n.4044C>T | ||
| ENST00000644057.2:n.418C>T | ||
| ENST00000645004.2:n.1474C>T | ||
| ENST00000682051.1:n.3991C>T | ||
| ENST00000682110.1:n.4044C>T | ||
| ENST00000682140.1:c.3972C>T | ENSP00000507829.1:p.Tyr1324= | |
| ENST00000682185.1:n.5280C>T | ||
| ENST00000682204.1:c.*2113C>T | ENSP00000507094.1:n.*2113C>T | |
| ENST00000682215.1:n.4411C>T | ||
| ENST00000682288.1:c.*2406C>T | ENSP00000507506.1:n.*2406C>T | |
| ENST00000682442.1:n.4264C>T | ||
| ENST00000682528.1:n.4121C>T | ||
| ENST00000682673.1:n.3988C>T | ||
| ENST00000682805.1:n.4411C>T | ||
| ENST00000682965.1:c.*397C>T | ENSP00000508229.1:n.*397C>T | |
| ENST00000683093.1:n.4143C>T | ||
| ENST00000683136.1:c.3858C>T | ENSP00000507768.1:p.Tyr1286= | |
| ENST00000683153.1:n.4086C>T | ||
| ENST00000683365.1:n.4146C>T | ||
| ENST00000683377.1:n.4044C>T | ||
| ENST00000683456.1:c.*1112C>T | ENSP00000508318.1:n.*1112C>T | |
| ENST00000683522.1:n.4044C>T | ||
| ENST00000683562.1:c.*2144C>T | ENSP00000508265.1:n.*2144C>T | |
| ENST00000683693.1:n.4491C>T | ||
| ENST00000683725.1:c.3975C>T | ENSP00000507496.1:p.Tyr1325= | |
| ENST00000684010.1:n.4039C>T | ||
| ENST00000684157.1:n.4044C>T | ||
| ENST00000684253.1:n.3947C>T | ||
| ENST00000684288.1:c.*2147C>T | ENSP00000507143.1:n.*2147C>T | |
| ENST00000684313.1:n.3476C>T | ||
| ENST00000684332.1:n.4117C>T | ||
| ENST00000684371.1:n.4150C>T | ||
| ENST00000684404.1:n.4087C>T | ||
| ENST00000684442.1:n.4414C>T | ||
| ENST00000684555.1:c.*2187C>T | ENSP00000507705.1:n.*2187C>T | |
| ENST00000684571.1:c.3816C>T | ENSP00000506935.1:p.Tyr1272= | |
| ENST00000684593.1:c.*3680C>T | ENSP00000507005.1:n.*3680C>T | |
| ENST00000684711.1:c.*2371C>T | ENSP00000506841.1:n.*2371C>T | |
| ENST00000302539.9:c.3978C>T | ENSP00000303960.4:p.Tyr1326= | |
| ENST00000389817.8:c.3975C>T MANE Select | ENSP00000374467.4:p.Tyr1325= | |
| ENST00000642271.1:c.3972C>T | ENSP00000493749.1:p.Tyr1324= | |
| ENST00000642579.1:c.2059C>T | ||
| ENST00000642611.1:n.3929C>T | ||
| ENST00000642902.1:c.3757C>T | ||
| ENST00000643260.1:c.3975C>T | ENSP00000494450.1:p.Tyr1325= | |
| ENST00000643562.1:c.*1951C>T | ENSP00000496124.1:n.*1951C>T | |
| ENST00000643925.1:c.2469C>T | ||
| ENST00000644447.1:c.2426C>T | ENSP00000496282.1:n.2426C>T | |
| ENST00000644484.1:c.*2230C>T | ENSP00000493558.1:n.*2230C>T | |
| ENST00000644675.1:c.*2147C>T | ENSP00000494567.1:n.*2147C>T | |
| ENST00000644757.1:c.*2260C>T | ENSP00000495085.1:n.*2260C>T | |
| ENST00000644772.1:c.4041C>T | ENSP00000494321.1:p.Tyr1347= | |
| ENST00000645004.1:n.1484C>T | ||
| ENST00000645076.1:c.3174C>T | ||
| ENST00000645417.1:c.1163C>T | ||
| ENST00000645744.1:c.*2609C>T | ENSP00000494564.1:n.*2609C>T | |
| ENST00000645760.1:c.4250C>T | ||
| ENST00000645884.1:c.*1112C>T | ENSP00000495516.1:n.*1112C>T | |
| ENST00000646003.1:c.*1931C>T | ENSP00000495259.1:n.*1931C>T | |
| ENST00000646207.1:c.*2812C>T | ENSP00000495025.1:n.*2812C>T | |
| ENST00000646276.1:c.*2248C>T | ENSP00000496070.1:n.*2248C>T | |
| ENST00000646592.1:c.3281C>T | ||
| ENST00000646902.1:c.3972C>T | ENSP00000494101.1:p.Tyr1324= | |
| ENST00000646993.1:c.*2371C>T | ENSP00000493720.1:n.*2371C>T | |
| ENST00000647013.1:c.3981C>T | ENSP00000496741.1:n.3981C>T | |
| ENST00000647015.1:c.3726C>T | ENSP00000495389.1:p.Tyr1242= | |
| ENST00000647086.1:c.*3591C>T | ENSP00000493677.1:n.*3591C>T | |
| ENST00000647158.1:c.*2116C>T | ENSP00000495744.1:n.*2116C>T | |
| ENST00000302539.8:c.3978C>T | ENSP00000303960.4:p.Tyr1326= | |
| ENST00000389817.7:c.3975C>T | ENSP00000374467.3:p.Tyr1325= | |
| ENST00000527905.5:c.*851C>T | ENSP00000431653.1:n.*851C>T | |
| ENST00000528374.1:c.445C>T | ||
| ENST00000531137.1:n.394C>T | ||
| ENST00000531891.1:c.343C>T | ||
| ENST00000532220.1:n.303C>T | ||
| NM_000352.4:c.3975C>T | NP_000343.2:p.Tyr1325= | |
| NM_001287174.1:c.3978C>T | NP_001274103.1:p.Tyr1326= | |
| XM_011520331.1:c.3975C>T | XP_011518633.1:p.Tyr1325= | |
| XM_011520332.1:c.3978C>T | XP_011518634.1:p.Tyr1326= | |
| XM_011520333.1:c.2475C>T | XP_011518635.1:p.Tyr825= | |
| XR_930890.1:n.4041C>T | ||
| NM_001351295.1:c.4041C>T | NP_001338224.1:p.Tyr1347= | |
| NM_001351296.1:c.3975C>T | NP_001338225.1:p.Tyr1325= | |
| NM_001351297.1:c.3972C>T | NP_001338226.1:p.Tyr1324= | |
| NR_147094.1:n.4124C>T | ||
| XM_017018197.2:c.4044C>T | XP_016873686.1:p.Tyr1348= | |
| XM_017018199.1:c.4041C>T | XP_016873688.1:p.Tyr1347= | |
| XM_017018201.2:c.4044C>T | XP_016873690.1:p.Tyr1348= | |
| XM_017018202.1:c.2541C>T | XP_016873691.1:p.Tyr847= | |
| XM_017018204.1:c.1932C>T | XP_016873693.1:p.Tyr644= | |
| XM_024448668.1:c.2343C>T | XP_024304436.1:p.Tyr781= | |
| XR_001747945.2:n.4116C>T | ||
| XR_001747946.2:n.4047C>T | ||
| XR_002957189.1:n.4566C>T | ||
| NM_000352.6:c.3975C>T MANE Select | NP_000343.2:p.Tyr1325= | |
| NM_001287174.2:c.3978C>T | NP_001274103.1:p.Tyr1326= | |
| NM_001351295.2:c.4041C>T | NP_001338224.1:p.Tyr1347= | |
| NM_001351296.2:c.3975C>T | NP_001338225.1:p.Tyr1325= | |
| NM_001351297.2:c.3972C>T | NP_001338226.1:p.Tyr1324= | |
| NR_147094.2:n.4124C>T | ||
| NM_001287174.3:c.3978C>T | NP_001274103.1:p.Tyr1326= |