gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00116271 (SAS)
Genomes Max Group AF
0.00097158 (SAS)
Exomes Max Group AF
0.00113096 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17395215G>A , CM000673.2:g.17395215G>A | GRCh38 |
| NC_000011.9:g.17416762G>A , CM000673.1:g.17416762G>A | GRCh37 |
| NC_000011.8:g.17373338G>A | NCBI36 |
| NG_008867.1:g.86688C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.3969C>T | ||
| ENST00000526037.6:n.303C>T | ||
| ENST00000528374.2:c.959C>T | ||
| ENST00000529967.6:n.2707C>T | ||
| ENST00000532220.2:n.3601C>T | ||
| ENST00000642611.2:n.5701C>T | ||
| ENST00000644057.2:n.944C>T | ||
| ENST00000645004.2:n.1867C>T | ||
| ENST00000682051.1:n.4530C>T | ||
| ENST00000682110.1:n.4583C>T | ||
| ENST00000682140.1:c.*154C>T | ENSP00000507829.1:n.*154C>T | |
| ENST00000682185.1:n.5673C>T | ||
| ENST00000682204.1:c.*2506C>T | ENSP00000507094.1:n.*2506C>T | |
| ENST00000682215.1:n.4950C>T | ||
| ENST00000682288.1:c.*2799C>T | ENSP00000507506.1:n.*2799C>T | |
| ENST00000682442.1:n.4803C>T | ||
| ENST00000682528.1:n.4660C>T | ||
| ENST00000682673.1:n.4527C>T | ||
| ENST00000682805.1:n.4988C>T | ||
| ENST00000682965.1:c.*790C>T | ENSP00000508229.1:n.*790C>T | |
| ENST00000683093.1:n.5606+395C>T | ||
| ENST00000683136.1:c.4251C>T | ENSP00000507768.1:p.Ile1417= | |
| ENST00000683153.1:n.4625C>T | ||
| ENST00000683365.1:n.4685C>T | ||
| ENST00000683377.1:n.4522+395C>T | ||
| ENST00000683456.1:c.*1505C>T | ENSP00000508318.1:n.*1505C>T | |
| ENST00000683522.1:n.4583C>T | ||
| ENST00000683562.1:c.*2476+395C>T | ENSP00000508265.1:n.*2476+395C>T | |
| ENST00000683693.1:n.6087+395C>T | ||
| ENST00000683725.1:c.4307+395C>T | ENSP00000507496.1:n.4307+395C>T | |
| ENST00000684010.1:n.4578C>T | ||
| ENST00000684157.1:n.5568C>T | ||
| ENST00000684253.1:n.4486C>T | ||
| ENST00000684288.1:c.*2540C>T | ENSP00000507143.1:n.*2540C>T | |
| ENST00000684313.1:n.4015C>T | ||
| ENST00000684332.1:n.4656C>T | ||
| ENST00000684371.1:n.4689C>T | ||
| ENST00000684404.1:n.5611C>T | ||
| ENST00000684442.1:n.4807C>T | ||
| ENST00000684555.1:c.*2580C>T | ENSP00000507705.1:n.*2580C>T | |
| ENST00000684571.1:c.4209C>T | ENSP00000506935.1:p.Ile1403= | |
| ENST00000684593.1:c.*4073C>T | ENSP00000507005.1:n.*4073C>T | |
| ENST00000684711.1:c.*2764C>T | ENSP00000506841.1:n.*2764C>T | |
| ENST00000302539.9:c.4371C>T | ENSP00000303960.4:p.Ile1457= | |
| ENST00000389817.8:c.4368C>T MANE Select | ENSP00000374467.4:p.Ile1456= | |
| ENST00000642271.1:c.4365C>T | ENSP00000493749.1:p.Ile1455= | |
| ENST00000642579.1:c.2422C>T | ||
| ENST00000642611.1:n.5586C>T | ||
| ENST00000642902.1:c.4150C>T | ||
| ENST00000643260.1:c.4368C>T | ENSP00000494450.1:p.Ile1456= | |
| ENST00000643562.1:c.*2490C>T | ENSP00000496124.1:n.*2490C>T | |
| ENST00000643925.1:c.3008C>T | ||
| ENST00000644057.1:n.445C>T | ||
| ENST00000644484.1:c.*3754C>T | ENSP00000493558.1:n.*3754C>T | |
| ENST00000644675.1:c.*2540C>T | ENSP00000494567.1:n.*2540C>T | |
| ENST00000644757.1:c.*3202+1049C>T | ENSP00000495085.1:n.*3202+1049C>T | |
| ENST00000644772.1:c.4434C>T | ENSP00000494321.1:p.Ile1478= | |
| ENST00000645004.1:n.2061C>T | ||
| ENST00000645076.1:c.3506+395C>T | ||
| ENST00000645417.1:c.1556C>T | ||
| ENST00000645744.1:c.*4053C>T | ENSP00000494564.1:n.*4053C>T | |
| ENST00000645760.1:c.4789C>T | ||
| ENST00000645884.1:c.*1651C>T | ENSP00000495516.1:n.*1651C>T | |
| ENST00000646003.1:c.*2390C>T | ENSP00000495259.1:n.*2390C>T | |
| ENST00000646207.1:c.*3205C>T | ENSP00000495025.1:n.*3205C>T | |
| ENST00000646276.1:c.*3772C>T | ENSP00000496070.1:n.*3772C>T | |
| ENST00000646592.1:c.3674C>T | ||
| ENST00000646902.1:c.4335C>T | ENSP00000494101.1:p.Ile1445= | |
| ENST00000646993.1:c.*2849+395C>T | ENSP00000493720.1:n.*2849+395C>T | |
| ENST00000647013.1:c.4374C>T | ENSP00000496741.1:n.4374C>T | |
| ENST00000647015.1:c.4119C>T | ENSP00000495389.1:p.Ile1373= | |
| ENST00000647086.1:c.*3954C>T | ENSP00000493677.1:n.*3954C>T | |
| ENST00000647158.1:c.*2655C>T | ENSP00000495744.1:n.*2655C>T | |
| ENST00000302539.8:c.4371C>T | ENSP00000303960.4:p.Ile1457= | |
| ENST00000389817.7:c.4368C>T | ENSP00000374467.3:p.Ile1456= | |
| ENST00000525022.1:n.306+395C>T | ||
| ENST00000526037.5:n.171+395C>T | ||
| ENST00000526168.5:c.156C>T | ||
| ENST00000531642.5:c.399C>T | ||
| NM_000352.4:c.4368C>T | NP_000343.2:p.Ile1456= | |
| NM_001287174.1:c.4371C>T | NP_001274103.1:p.Ile1457= | |
| XM_011520331.1:c.4368C>T | XP_011518633.1:p.Ile1456= | |
| XM_011520332.1:c.4310+395C>T | XP_011518634.1:n.4310+395C>T | |
| XM_011520333.1:c.2868C>T | XP_011518635.1:p.Ile956= | |
| XR_930890.1:n.4373+395C>T | ||
| NM_001351295.1:c.4434C>T | NP_001338224.1:p.Ile1478= | |
| NM_001351296.1:c.4368C>T | NP_001338225.1:p.Ile1456= | |
| NM_001351297.1:c.4365C>T | NP_001338226.1:p.Ile1455= | |
| NR_147094.1:n.4663C>T | ||
| XM_017018197.2:c.4437C>T | XP_016873686.1:p.Ile1479= | |
| XM_017018199.1:c.4434C>T | XP_016873688.1:p.Ile1478= | |
| XM_017018201.2:c.4376+395C>T | XP_016873690.1:n.4376+395C>T | |
| XM_017018202.1:c.2934C>T | XP_016873691.1:p.Ile978= | |
| XM_017018204.1:c.2325C>T | XP_016873693.1:p.Ile775= | |
| XM_024448668.1:c.2736C>T | XP_024304436.1:p.Ile912= | |
| XR_001747945.2:n.4448+395C>T | ||
| XR_001747946.2:n.4379+395C>T | ||
| XR_002957189.1:n.6162+395C>T | ||
| NM_000352.6:c.4368C>T MANE Select | NP_000343.2:p.Ile1456= | |
| NM_001287174.2:c.4371C>T | NP_001274103.1:p.Ile1457= | |
| NM_001351295.2:c.4434C>T | NP_001338224.1:p.Ile1478= | |
| NM_001351296.2:c.4368C>T | NP_001338225.1:p.Ile1456= | |
| NM_001351297.2:c.4365C>T | NP_001338226.1:p.Ile1455= | |
| NR_147094.2:n.4663C>T | ||
| NM_001287174.3:c.4371C>T | NP_001274103.1:p.Ile1457= |