Linked Data
ClinVar Variation Id:
1567553
ClinVar RCV Id:
RCV002214880
dbSNP Id:
rs2133395252
gnomAD v4:
11-17394368-G-A
MyVariant Identifiers:
chr11:g.17415915G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17394368G>A , CM000673.2:g.17394368G>A | GRCh38 |
| NC_000011.9:g.17415915G>A , CM000673.1:g.17415915G>A | GRCh37 |
| NC_000011.8:g.17372491G>A | NCBI36 |
| NG_008867.1:g.87535C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524561.2:n.4044C>T | ||
| ENST00000526037.6:n.378C>T | ||
| ENST00000528374.2:c.1034C>T | ||
| ENST00000529967.6:n.2782C>T | ||
| ENST00000532220.2:n.3676C>T | ||
| ENST00000642611.2:n.5776C>T | ||
| ENST00000644057.2:n.1019C>T | ||
| ENST00000645004.2:n.1942C>T | ||
| ENST00000682051.1:n.4605C>T | ||
| ENST00000682110.1:n.4658C>T | ||
| ENST00000682140.1:c.*229C>T | ENSP00000507829.1:n.*229C>T | |
| ENST00000682185.1:n.5748C>T | ||
| ENST00000682204.1:c.*2581C>T | ENSP00000507094.1:n.*2581C>T | |
| ENST00000682215.1:n.5025C>T | ||
| ENST00000682288.1:c.*2874C>T | ENSP00000507506.1:n.*2874C>T | |
| ENST00000682442.1:n.4878C>T | ||
| ENST00000682528.1:n.4735C>T | ||
| ENST00000682673.1:n.4602C>T | ||
| ENST00000682805.1:n.5063C>T | ||
| ENST00000682965.1:c.*865C>T | ENSP00000508229.1:n.*865C>T | |
| ENST00000683093.1:n.5638C>T | ||
| ENST00000683136.1:c.4326C>T | ENSP00000507768.1:p.Phe1442= | |
| ENST00000683153.1:n.4700C>T | ||
| ENST00000683365.1:n.4760C>T | ||
| ENST00000683377.1:n.4554C>T | ||
| ENST00000683456.1:c.*1580C>T | ENSP00000508318.1:n.*1580C>T | |
| ENST00000683522.1:n.4740C>T | ||
| ENST00000683562.1:c.*2508C>T | ENSP00000508265.1:n.*2508C>T | |
| ENST00000683693.1:n.6119C>T | ||
| ENST00000683725.1:c.4339C>T | ENSP00000507496.1:p.Gln1447Ter | |
| ENST00000684010.1:n.4653C>T | ||
| ENST00000684014.1:n.630C>T | ||
| ENST00000684157.1:n.5643C>T | ||
| ENST00000684253.1:n.4561C>T | ||
| ENST00000684288.1:c.*2615C>T | ENSP00000507143.1:n.*2615C>T | |
| ENST00000684313.1:n.4090C>T | ||
| ENST00000684332.1:n.4731C>T | ||
| ENST00000684371.1:n.4764C>T | ||
| ENST00000684404.1:n.5686C>T | ||
| ENST00000684442.1:n.4882C>T | ||
| ENST00000684555.1:c.*2655C>T | ENSP00000507705.1:n.*2655C>T | |
| ENST00000684571.1:c.4284C>T | ENSP00000506935.1:p.Phe1428= | |
| ENST00000684593.1:c.*4148C>T | ENSP00000507005.1:n.*4148C>T | |
| ENST00000684711.1:c.*2839C>T | ENSP00000506841.1:n.*2839C>T | |
| ENST00000302539.9:c.4446C>T | ENSP00000303960.4:p.Phe1482= | |
| ENST00000389817.8:c.4443C>T MANE Select | ENSP00000374467.4:p.Phe1481= | |
| ENST00000642271.1:c.4440C>T | ENSP00000493749.1:p.Phe1480= | |
| ENST00000642579.1:c.2497C>T | ||
| ENST00000642611.1:n.5661C>T | ||
| ENST00000642902.1:c.4225C>T | ||
| ENST00000643260.1:c.4443C>T | ENSP00000494450.1:p.Phe1481= | |
| ENST00000643562.1:c.*2565C>T | ENSP00000496124.1:n.*2565C>T | |
| ENST00000643925.1:c.3083C>T | ||
| ENST00000644057.1:n.602C>T | ||
| ENST00000644484.1:c.*3829C>T | ENSP00000493558.1:n.*3829C>T | |
| ENST00000644675.1:c.*2615C>T | ENSP00000494567.1:n.*2615C>T | |
| ENST00000644757.1:c.*3203-1388C>T | ENSP00000495085.1:n.*3203-1388C>T | |
| ENST00000644772.1:c.4509C>T | ENSP00000494321.1:p.Phe1503= | |
| ENST00000645004.1:n.2136C>T | ||
| ENST00000645076.1:c.3538C>T | ||
| ENST00000645417.1:c.1631C>T | ||
| ENST00000645744.1:c.*4128C>T | ENSP00000494564.1:n.*4128C>T | |
| ENST00000645760.1:c.4864C>T | ||
| ENST00000645884.1:c.*1726C>T | ENSP00000495516.1:n.*1726C>T | |
| ENST00000646003.1:c.*2465C>T | ENSP00000495259.1:n.*2465C>T | |
| ENST00000646207.1:c.*3280C>T | ENSP00000495025.1:n.*3280C>T | |
| ENST00000646276.1:c.*3847C>T | ENSP00000496070.1:n.*3847C>T | |
| ENST00000646592.1:c.3749C>T | ||
| ENST00000646902.1:c.4410C>T | ENSP00000494101.1:p.Phe1470= | |
| ENST00000646993.1:c.*2881C>T | ENSP00000493720.1:n.*2881C>T | |
| ENST00000647013.1:c.4449C>T | ENSP00000496741.1:n.4449C>T | |
| ENST00000647015.1:c.4194C>T | ENSP00000495389.1:p.Phe1398= | |
| ENST00000647086.1:c.*4029C>T | ENSP00000493677.1:n.*4029C>T | |
| ENST00000647158.1:c.*2730C>T | ENSP00000495744.1:n.*2730C>T | |
| ENST00000302539.8:c.4446C>T | ENSP00000303960.4:p.Phe1482= | |
| ENST00000389817.7:c.4443C>T | ENSP00000374467.3:p.Phe1481= | |
| ENST00000525022.1:n.338C>T | ||
| ENST00000526037.5:n.203C>T | ||
| ENST00000526168.5:c.231C>T | ||
| ENST00000531642.5:c.474C>T | ||
| NM_000352.4:c.4443C>T | NP_000343.2:p.Phe1481= | |
| NM_001287174.1:c.4446C>T | NP_001274103.1:p.Phe1482= | |
| XM_011520331.1:c.4443C>T | XP_011518633.1:p.Phe1481= | |
| XM_011520332.1:c.4342C>T | XP_011518634.1:p.Gln1448Ter | |
| XM_011520333.1:c.2943C>T | XP_011518635.1:p.Phe981= | |
| XR_930890.1:n.4405C>T | ||
| NM_001351295.1:c.4509C>T | NP_001338224.1:p.Phe1503= | |
| NM_001351296.1:c.4443C>T | NP_001338225.1:p.Phe1481= | |
| NM_001351297.1:c.4440C>T | NP_001338226.1:p.Phe1480= | |
| NR_147094.1:n.4738C>T | ||
| XM_017018197.2:c.4512C>T | XP_016873686.1:p.Phe1504= | |
| XM_017018199.1:c.4509C>T | XP_016873688.1:p.Phe1503= | |
| XM_017018201.2:c.4408C>T | XP_016873690.1:p.Gln1470Ter | |
| XM_017018202.1:c.3009C>T | XP_016873691.1:p.Phe1003= | |
| XM_017018204.1:c.2400C>T | XP_016873693.1:p.Phe800= | |
| XM_024448668.1:c.2811C>T | XP_024304436.1:p.Phe937= | |
| XR_001747945.2:n.4480C>T | ||
| XR_001747946.2:n.4411C>T | ||
| XR_002957189.1:n.6194C>T | ||
| NM_000352.6:c.4443C>T MANE Select | NP_000343.2:p.Phe1481= | |
| NM_001287174.2:c.4446C>T | NP_001274103.1:p.Phe1482= | |
| NM_001351295.2:c.4509C>T | NP_001338224.1:p.Phe1503= | |
| NM_001351296.2:c.4443C>T | NP_001338225.1:p.Phe1481= | |
| NM_001351297.2:c.4440C>T | NP_001338226.1:p.Phe1480= | |
| NR_147094.2:n.4738C>T | ||
| NM_001287174.3:c.4446C>T | NP_001274103.1:p.Phe1482= |