Linked Data
ClinVar Variation Id:
1091791
ClinVar RCV Id:
RCV001411422
dbSNP Id:
rs1007114942
gnomAD v2:
11-17417442-G-T
gnomAD v4:
11-17395895-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17395895G>T , CM000673.2:g.17395895G>T | GRCh38 |
| NC_000011.9:g.17417442G>T , CM000673.1:g.17417442G>T | GRCh37 |
| NC_000011.8:g.17374018G>T | NCBI36 |
| NG_008867.1:g.86008C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.3756C>A | ||
| ENST00000528374.2:c.746C>A | ||
| ENST00000529967.6:n.2494C>A | ||
| ENST00000532220.2:n.3388C>A | ||
| ENST00000642611.2:n.5355C>A | ||
| ENST00000644057.2:n.598C>A | ||
| ENST00000645004.2:n.1654C>A | ||
| ENST00000682051.1:n.4317C>A | ||
| ENST00000682110.1:n.4370C>A | ||
| ENST00000682140.1:c.4021C>A | ENSP00000507829.1:p.Leu1341Ile | |
| ENST00000682185.1:n.5460C>A | ||
| ENST00000682204.1:c.*2293C>A | ENSP00000507094.1:n.*2293C>A | |
| ENST00000682215.1:n.4737C>A | ||
| ENST00000682288.1:c.*2586C>A | ENSP00000507506.1:n.*2586C>A | |
| ENST00000682442.1:n.4590C>A | ||
| ENST00000682528.1:n.4447C>A | ||
| ENST00000682673.1:n.4314C>A | ||
| ENST00000682805.1:n.4775C>A | ||
| ENST00000682965.1:c.*577C>A | ENSP00000508229.1:n.*577C>A | |
| ENST00000683093.1:n.5454C>A | ||
| ENST00000683136.1:c.4038C>A | ENSP00000507768.1:p.Ser1346= | |
| ENST00000683153.1:n.4412C>A | ||
| ENST00000683365.1:n.4472C>A | ||
| ENST00000683377.1:n.4370C>A | ||
| ENST00000683456.1:c.*1292C>A | ENSP00000508318.1:n.*1292C>A | |
| ENST00000683522.1:n.4370C>A | ||
| ENST00000683562.1:c.*2324C>A | ENSP00000508265.1:n.*2324C>A | |
| ENST00000683693.1:n.5802C>A | ||
| ENST00000683725.1:c.4155C>A | ENSP00000507496.1:p.Ser1385= | |
| ENST00000684010.1:n.4365C>A | ||
| ENST00000684157.1:n.5355C>A | ||
| ENST00000684253.1:n.4273C>A | ||
| ENST00000684288.1:c.*2327C>A | ENSP00000507143.1:n.*2327C>A | |
| ENST00000684313.1:n.3802C>A | ||
| ENST00000684332.1:n.4443C>A | ||
| ENST00000684371.1:n.4476C>A | ||
| ENST00000684404.1:n.5398C>A | ||
| ENST00000684442.1:n.4594C>A | ||
| ENST00000684555.1:c.*2367C>A | ENSP00000507705.1:n.*2367C>A | |
| ENST00000684571.1:c.3996C>A | ENSP00000506935.1:p.Ser1332= | |
| ENST00000684593.1:c.*3860C>A | ENSP00000507005.1:n.*3860C>A | |
| ENST00000684711.1:c.*2551C>A | ENSP00000506841.1:n.*2551C>A | |
| ENST00000302539.9:c.4158C>A | ENSP00000303960.4:p.Ser1386= | |
| ENST00000389817.8:c.4155C>A MANE Select | ENSP00000374467.4:p.Ser1385= | |
| ENST00000642271.1:c.4152C>A | ENSP00000493749.1:p.Ser1384= | |
| ENST00000642579.1:c.2209C>A | ||
| ENST00000642611.1:n.5240C>A | ||
| ENST00000642902.1:c.3937C>A | ||
| ENST00000643260.1:c.4155C>A | ENSP00000494450.1:p.Ser1385= | |
| ENST00000643562.1:c.*2277C>A | ENSP00000496124.1:n.*2277C>A | |
| ENST00000643925.1:c.2795C>A | ||
| ENST00000644057.1:n.232C>A | ||
| ENST00000644484.1:c.*3541C>A | ENSP00000493558.1:n.*3541C>A | |
| ENST00000644675.1:c.*2327C>A | ENSP00000494567.1:n.*2327C>A | |
| ENST00000644757.1:c.*3202+369C>A | ENSP00000495085.1:n.*3202+369C>A | |
| ENST00000644772.1:c.4221C>A | ENSP00000494321.1:p.Ser1407= | |
| ENST00000645004.1:n.1848C>A | ||
| ENST00000645076.1:c.3354C>A | ||
| ENST00000645417.1:c.1343C>A | ||
| ENST00000645744.1:c.*3920C>A | ENSP00000494564.1:n.*3920C>A | |
| ENST00000645760.1:c.4576C>A | ||
| ENST00000645884.1:c.*1438C>A | ENSP00000495516.1:n.*1438C>A | |
| ENST00000646003.1:c.*2257C>A | ENSP00000495259.1:n.*2257C>A | |
| ENST00000646207.1:c.*2992C>A | ENSP00000495025.1:n.*2992C>A | |
| ENST00000646276.1:c.*3559C>A | ENSP00000496070.1:n.*3559C>A | |
| ENST00000646592.1:c.3461C>A | ||
| ENST00000646902.1:c.4122C>A | ENSP00000494101.1:p.Ser1374= | |
| ENST00000646993.1:c.*2697C>A | ENSP00000493720.1:n.*2697C>A | |
| ENST00000647013.1:c.4161C>A | ENSP00000496741.1:n.4161C>A | |
| ENST00000647015.1:c.3906C>A | ENSP00000495389.1:p.Ser1302= | |
| ENST00000647086.1:c.*3741C>A | ENSP00000493677.1:n.*3741C>A | |
| ENST00000647158.1:c.*2442C>A | ENSP00000495744.1:n.*2442C>A | |
| ENST00000302539.8:c.4158C>A | ENSP00000303960.4:p.Ser1386= | |
| ENST00000389817.7:c.4155C>A | ENSP00000374467.3:p.Ser1385= | |
| ENST00000525022.1:n.21C>A | ||
| ENST00000526168.5:c.23C>A | ||
| NM_000352.4:c.4155C>A | NP_000343.2:p.Ser1385= | |
| NM_001287174.1:c.4158C>A | NP_001274103.1:p.Ser1386= | |
| XM_011520331.1:c.4155C>A | XP_011518633.1:p.Ser1385= | |
| XM_011520332.1:c.4158C>A | XP_011518634.1:p.Ser1386= | |
| XM_011520333.1:c.2655C>A | XP_011518635.1:p.Ser885= | |
| XR_930890.1:n.4221C>A | ||
| NM_001351295.1:c.4221C>A | NP_001338224.1:p.Ser1407= | |
| NM_001351296.1:c.4155C>A | NP_001338225.1:p.Ser1385= | |
| NM_001351297.1:c.4152C>A | NP_001338226.1:p.Ser1384= | |
| NR_147094.1:n.4450C>A | ||
| XM_017018197.2:c.4224C>A | XP_016873686.1:p.Ser1408= | |
| XM_017018199.1:c.4221C>A | XP_016873688.1:p.Ser1407= | |
| XM_017018201.2:c.4224C>A | XP_016873690.1:p.Ser1408= | |
| XM_017018202.1:c.2721C>A | XP_016873691.1:p.Ser907= | |
| XM_017018204.1:c.2112C>A | XP_016873693.1:p.Ser704= | |
| XM_024448668.1:c.2523C>A | XP_024304436.1:p.Ser841= | |
| XR_001747945.2:n.4296C>A | ||
| XR_001747946.2:n.4227C>A | ||
| XR_002957189.1:n.5877C>A | ||
| NM_000352.6:c.4155C>A MANE Select | NP_000343.2:p.Ser1385= | |
| NM_001287174.2:c.4158C>A | NP_001274103.1:p.Ser1386= | |
| NM_001351295.2:c.4221C>A | NP_001338224.1:p.Ser1407= | |
| NM_001351296.2:c.4155C>A | NP_001338225.1:p.Ser1385= | |
| NM_001351297.2:c.4152C>A | NP_001338226.1:p.Ser1384= | |
| NR_147094.2:n.4450C>A | ||
| NM_001287174.3:c.4158C>A | NP_001274103.1:p.Ser1386= |