Linked Data
ClinVar Variation Id:
446775
dbSNP Id:
rs72559718
gnomAD v2:
11-17417440-G-A
gnomAD v3:
11-17395893-G-A
gnomAD v4:
11-17395893-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17395893G>A , CM000673.2:g.17395893G>A | GRCh38 |
| NC_000011.9:g.17417440G>A , CM000673.1:g.17417440G>A | GRCh37 |
| NC_000011.8:g.17374016G>A | NCBI36 |
| NG_008867.1:g.86010C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.3758C>T | ||
| ENST00000528374.2:c.748C>T | ||
| ENST00000529967.6:n.2496C>T | ||
| ENST00000532220.2:n.3390C>T | ||
| ENST00000642611.2:n.5357C>T | ||
| ENST00000644057.2:n.600C>T | ||
| ENST00000645004.2:n.1656C>T | ||
| ENST00000682051.1:n.4319C>T | ||
| ENST00000682110.1:n.4372C>T | ||
| ENST00000682140.1:c.4023C>T | ENSP00000507829.1:p.Leu1341= | |
| ENST00000682185.1:n.5462C>T | ||
| ENST00000682204.1:c.*2295C>T | ENSP00000507094.1:n.*2295C>T | |
| ENST00000682215.1:n.4739C>T | ||
| ENST00000682288.1:c.*2588C>T | ENSP00000507506.1:n.*2588C>T | |
| ENST00000682442.1:n.4592C>T | ||
| ENST00000682528.1:n.4449C>T | ||
| ENST00000682673.1:n.4316C>T | ||
| ENST00000682805.1:n.4777C>T | ||
| ENST00000682965.1:c.*579C>T | ENSP00000508229.1:n.*579C>T | |
| ENST00000683093.1:n.5456C>T | ||
| ENST00000683136.1:c.4040C>T | ENSP00000507768.1:p.Ser1347Phe | |
| ENST00000683153.1:n.4414C>T | ||
| ENST00000683365.1:n.4474C>T | ||
| ENST00000683377.1:n.4372C>T | ||
| ENST00000683456.1:c.*1294C>T | ENSP00000508318.1:n.*1294C>T | |
| ENST00000683522.1:n.4372C>T | ||
| ENST00000683562.1:c.*2326C>T | ENSP00000508265.1:n.*2326C>T | |
| ENST00000683693.1:n.5804C>T | ||
| ENST00000683725.1:c.4157C>T | ENSP00000507496.1:p.Ser1386Phe | |
| ENST00000684010.1:n.4367C>T | ||
| ENST00000684157.1:n.5357C>T | ||
| ENST00000684253.1:n.4275C>T | ||
| ENST00000684288.1:c.*2329C>T | ENSP00000507143.1:n.*2329C>T | |
| ENST00000684313.1:n.3804C>T | ||
| ENST00000684332.1:n.4445C>T | ||
| ENST00000684371.1:n.4478C>T | ||
| ENST00000684404.1:n.5400C>T | ||
| ENST00000684442.1:n.4596C>T | ||
| ENST00000684555.1:c.*2369C>T | ENSP00000507705.1:n.*2369C>T | |
| ENST00000684571.1:c.3998C>T | ENSP00000506935.1:p.Ser1333Phe | |
| ENST00000684593.1:c.*3862C>T | ENSP00000507005.1:n.*3862C>T | |
| ENST00000684711.1:c.*2553C>T | ENSP00000506841.1:n.*2553C>T | |
| ENST00000302539.9:c.4160C>T | ENSP00000303960.4:p.Ser1387Phe | |
| ENST00000389817.8:c.4157C>T MANE Select | ENSP00000374467.4:p.Ser1386Phe | |
| ENST00000642271.1:c.4154C>T | ENSP00000493749.1:p.Ser1385Phe | |
| ENST00000642579.1:c.2211C>T | ||
| ENST00000642611.1:n.5242C>T | ||
| ENST00000642902.1:c.3939C>T | ||
| ENST00000643260.1:c.4157C>T | ENSP00000494450.1:p.Ser1386Phe | |
| ENST00000643562.1:c.*2279C>T | ENSP00000496124.1:n.*2279C>T | |
| ENST00000643925.1:c.2797C>T | ||
| ENST00000644057.1:n.234C>T | ||
| ENST00000644484.1:c.*3543C>T | ENSP00000493558.1:n.*3543C>T | |
| ENST00000644675.1:c.*2329C>T | ENSP00000494567.1:n.*2329C>T | |
| ENST00000644757.1:c.*3202+371C>T | ENSP00000495085.1:n.*3202+371C>T | |
| ENST00000644772.1:c.4223C>T | ENSP00000494321.1:p.Ser1408Phe | |
| ENST00000645004.1:n.1850C>T | ||
| ENST00000645076.1:c.3356C>T | ||
| ENST00000645417.1:c.1345C>T | ||
| ENST00000645744.1:c.*3922C>T | ENSP00000494564.1:n.*3922C>T | |
| ENST00000645760.1:c.4578C>T | ||
| ENST00000645884.1:c.*1440C>T | ENSP00000495516.1:n.*1440C>T | |
| ENST00000646003.1:c.*2259C>T | ENSP00000495259.1:n.*2259C>T | |
| ENST00000646207.1:c.*2994C>T | ENSP00000495025.1:n.*2994C>T | |
| ENST00000646276.1:c.*3561C>T | ENSP00000496070.1:n.*3561C>T | |
| ENST00000646592.1:c.3463C>T | ||
| ENST00000646902.1:c.4124C>T | ENSP00000494101.1:p.Ser1375Phe | |
| ENST00000646993.1:c.*2699C>T | ENSP00000493720.1:n.*2699C>T | |
| ENST00000647013.1:c.4163C>T | ENSP00000496741.1:n.4163C>T | |
| ENST00000647015.1:c.3908C>T | ENSP00000495389.1:p.Ser1303Phe | |
| ENST00000647086.1:c.*3743C>T | ENSP00000493677.1:n.*3743C>T | |
| ENST00000647158.1:c.*2444C>T | ENSP00000495744.1:n.*2444C>T | |
| ENST00000302539.8:c.4160C>T | ENSP00000303960.4:p.Ser1387Phe | |
| ENST00000389817.7:c.4157C>T | ENSP00000374467.3:p.Ser1386Phe | |
| ENST00000525022.1:n.23C>T | ||
| ENST00000526168.5:c.25C>T | ||
| NM_000352.4:c.4157C>T | NP_000343.2:p.Ser1386Phe | |
| NM_001287174.1:c.4160C>T | NP_001274103.1:p.Ser1387Phe | |
| XM_011520331.1:c.4157C>T | XP_011518633.1:p.Ser1386Phe | |
| XM_011520332.1:c.4160C>T | XP_011518634.1:p.Ser1387Phe | |
| XM_011520333.1:c.2657C>T | XP_011518635.1:p.Ser886Phe | |
| XR_930890.1:n.4223C>T | ||
| NM_001351295.1:c.4223C>T | NP_001338224.1:p.Ser1408Phe | |
| NM_001351296.1:c.4157C>T | NP_001338225.1:p.Ser1386Phe | |
| NM_001351297.1:c.4154C>T | NP_001338226.1:p.Ser1385Phe | |
| NR_147094.1:n.4452C>T | ||
| XM_017018197.2:c.4226C>T | XP_016873686.1:p.Ser1409Phe | |
| XM_017018199.1:c.4223C>T | XP_016873688.1:p.Ser1408Phe | |
| XM_017018201.2:c.4226C>T | XP_016873690.1:p.Ser1409Phe | |
| XM_017018202.1:c.2723C>T | XP_016873691.1:p.Ser908Phe | |
| XM_017018204.1:c.2114C>T | XP_016873693.1:p.Ser705Phe | |
| XM_024448668.1:c.2525C>T | XP_024304436.1:p.Ser842Phe | |
| XR_001747945.2:n.4298C>T | ||
| XR_001747946.2:n.4229C>T | ||
| XR_002957189.1:n.5879C>T | ||
| NM_000352.6:c.4157C>T MANE Select | NP_000343.2:p.Ser1386Phe | |
| NM_001287174.2:c.4160C>T | NP_001274103.1:p.Ser1387Phe | |
| NM_001351295.2:c.4223C>T | NP_001338224.1:p.Ser1408Phe | |
| NM_001351296.2:c.4157C>T | NP_001338225.1:p.Ser1386Phe | |
| NM_001351297.2:c.4154C>T | NP_001338226.1:p.Ser1385Phe | |
| NR_147094.2:n.4452C>T | ||
| NM_001287174.3:c.4160C>T | NP_001274103.1:p.Ser1387Phe |