Linked Data
ClinVar Variation Id:
2183361
ClinVar RCV Id:
RCV002599570
dbSNP Id:
rs753002396
ExAC:
11:17418532 G / A
gnomAD v2:
11-17418532-G-A
gnomAD v4:
11-17396985-G-A
COSMIC:
COSM268550
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17396985G>A , CM000673.2:g.17396985G>A | GRCh38 |
| NC_000011.9:g.17418532G>A , CM000673.1:g.17418532G>A | GRCh37 |
| NC_000011.8:g.17375108G>A | NCBI36 |
| NG_008867.1:g.84918C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.3651C>T | ||
| ENST00000528374.2:c.641C>T | ||
| ENST00000529967.6:n.2389C>T | ||
| ENST00000532220.2:n.2298C>T | ||
| ENST00000642611.2:n.4265C>T | ||
| ENST00000644057.2:n.493C>T | ||
| ENST00000645004.2:n.1549C>T | ||
| ENST00000682051.1:n.4212C>T | ||
| ENST00000682110.1:n.4265C>T | ||
| ENST00000682140.1:c.3985+208C>T | ENSP00000507829.1:n.3985+208C>T | |
| ENST00000682185.1:n.5355C>T | ||
| ENST00000682204.1:c.*2188C>T | ENSP00000507094.1:n.*2188C>T | |
| ENST00000682215.1:n.4632C>T | ||
| ENST00000682288.1:c.*2481C>T | ENSP00000507506.1:n.*2481C>T | |
| ENST00000682442.1:n.4485C>T | ||
| ENST00000682528.1:n.4342C>T | ||
| ENST00000682673.1:n.4209C>T | ||
| ENST00000682805.1:n.4632C>T | ||
| ENST00000682965.1:c.*472C>T | ENSP00000508229.1:n.*472C>T | |
| ENST00000683093.1:n.4364C>T | ||
| ENST00000683136.1:c.3933C>T | ENSP00000507768.1:p.Ser1311= | |
| ENST00000683153.1:n.4307C>T | ||
| ENST00000683365.1:n.4367C>T | ||
| ENST00000683377.1:n.4265C>T | ||
| ENST00000683456.1:c.*1187C>T | ENSP00000508318.1:n.*1187C>T | |
| ENST00000683522.1:n.4265C>T | ||
| ENST00000683562.1:c.*2219C>T | ENSP00000508265.1:n.*2219C>T | |
| ENST00000683693.1:n.4712C>T | ||
| ENST00000683725.1:c.4050C>T | ENSP00000507496.1:p.Ser1350= | |
| ENST00000684010.1:n.4260C>T | ||
| ENST00000684157.1:n.4265C>T | ||
| ENST00000684253.1:n.4168C>T | ||
| ENST00000684288.1:c.*2222C>T | ENSP00000507143.1:n.*2222C>T | |
| ENST00000684313.1:n.3697C>T | ||
| ENST00000684332.1:n.4338C>T | ||
| ENST00000684371.1:n.4371C>T | ||
| ENST00000684404.1:n.4308C>T | ||
| ENST00000684442.1:n.4489C>T | ||
| ENST00000684555.1:c.*2262C>T | ENSP00000507705.1:n.*2262C>T | |
| ENST00000684571.1:c.3891C>T | ENSP00000506935.1:p.Ser1297= | |
| ENST00000684593.1:c.*3755C>T | ENSP00000507005.1:n.*3755C>T | |
| ENST00000684711.1:c.*2446C>T | ENSP00000506841.1:n.*2446C>T | |
| ENST00000302539.9:c.4053C>T | ENSP00000303960.4:p.Ser1351= | |
| ENST00000389817.8:c.4050C>T MANE Select | ENSP00000374467.4:p.Ser1350= | |
| ENST00000642271.1:c.4047C>T | ENSP00000493749.1:p.Ser1349= | |
| ENST00000642579.1:c.2104C>T | ||
| ENST00000642611.1:n.4150C>T | ||
| ENST00000642902.1:c.3832C>T | ||
| ENST00000643260.1:c.4050C>T | ENSP00000494450.1:p.Ser1350= | |
| ENST00000643562.1:c.*2172C>T | ENSP00000496124.1:n.*2172C>T | |
| ENST00000643925.1:c.2690C>T | ||
| ENST00000644057.1:n.127C>T | ||
| ENST00000644484.1:c.*2451C>T | ENSP00000493558.1:n.*2451C>T | |
| ENST00000644675.1:c.*2222C>T | ENSP00000494567.1:n.*2222C>T | |
| ENST00000644757.1:c.*2481C>T | ENSP00000495085.1:n.*2481C>T | |
| ENST00000644772.1:c.4116C>T | ENSP00000494321.1:p.Ser1372= | |
| ENST00000645004.1:n.1705C>T | ||
| ENST00000645076.1:c.3249C>T | ||
| ENST00000645417.1:c.1238C>T | ||
| ENST00000645744.1:c.*2830C>T | ENSP00000494564.1:n.*2830C>T | |
| ENST00000645760.1:c.4471C>T | ||
| ENST00000645884.1:c.*1333C>T | ENSP00000495516.1:n.*1333C>T | |
| ENST00000646003.1:c.*2152C>T | ENSP00000495259.1:n.*2152C>T | |
| ENST00000646207.1:c.*2887C>T | ENSP00000495025.1:n.*2887C>T | |
| ENST00000646276.1:c.*2469C>T | ENSP00000496070.1:n.*2469C>T | |
| ENST00000646592.1:c.3356C>T | ||
| ENST00000646902.1:c.4017C>T | ENSP00000494101.1:p.Ser1339= | |
| ENST00000646993.1:c.*2592C>T | ENSP00000493720.1:n.*2592C>T | |
| ENST00000647013.1:c.4056C>T | ENSP00000496741.1:n.4056C>T | |
| ENST00000647015.1:c.3801C>T | ENSP00000495389.1:p.Ser1267= | |
| ENST00000647086.1:c.*3636C>T | ENSP00000493677.1:n.*3636C>T | |
| ENST00000647158.1:c.*2337C>T | ENSP00000495744.1:n.*2337C>T | |
| ENST00000302539.8:c.4053C>T | ENSP00000303960.4:p.Ser1351= | |
| ENST00000389817.7:c.4050C>T | ENSP00000374467.3:p.Ser1350= | |
| ENST00000527905.5:c.*1072C>T | ENSP00000431653.1:n.*1072C>T | |
| ENST00000528374.1:c.532C>T | ||
| ENST00000531137.1:n.615C>T | ||
| ENST00000531891.1:c.388C>T | ||
| ENST00000532220.1:n.524C>T | ||
| NM_000352.4:c.4050C>T | NP_000343.2:p.Ser1350= | |
| NM_001287174.1:c.4053C>T | NP_001274103.1:p.Ser1351= | |
| XM_011520331.1:c.4050C>T | XP_011518633.1:p.Ser1350= | |
| XM_011520332.1:c.4053C>T | XP_011518634.1:p.Ser1351= | |
| XM_011520333.1:c.2550C>T | XP_011518635.1:p.Ser850= | |
| XR_930890.1:n.4116C>T | ||
| NM_001351295.1:c.4116C>T | NP_001338224.1:p.Ser1372= | |
| NM_001351296.1:c.4050C>T | NP_001338225.1:p.Ser1350= | |
| NM_001351297.1:c.4047C>T | NP_001338226.1:p.Ser1349= | |
| NR_147094.1:n.4345C>T | ||
| XM_017018197.2:c.4119C>T | XP_016873686.1:p.Ser1373= | |
| XM_017018199.1:c.4116C>T | XP_016873688.1:p.Ser1372= | |
| XM_017018201.2:c.4119C>T | XP_016873690.1:p.Ser1373= | |
| XM_017018202.1:c.2616C>T | XP_016873691.1:p.Ser872= | |
| XM_017018204.1:c.2007C>T | XP_016873693.1:p.Ser669= | |
| XM_024448668.1:c.2418C>T | XP_024304436.1:p.Ser806= | |
| XR_001747945.2:n.4191C>T | ||
| XR_001747946.2:n.4122C>T | ||
| XR_002957189.1:n.4787C>T | ||
| NM_000352.6:c.4050C>T MANE Select | NP_000343.2:p.Ser1350= | |
| NM_001287174.2:c.4053C>T | NP_001274103.1:p.Ser1351= | |
| NM_001351295.2:c.4116C>T | NP_001338224.1:p.Ser1372= | |
| NM_001351296.2:c.4050C>T | NP_001338225.1:p.Ser1350= | |
| NM_001351297.2:c.4047C>T | NP_001338226.1:p.Ser1349= | |
| NR_147094.2:n.4345C>T | ||
| NM_001287174.3:c.4053C>T | NP_001274103.1:p.Ser1351= |