Linked Data
dbSNP Id:
rs753937605
ExAC:
11:17418564 C / T
gnomAD v2:
11-17418564-C-T
gnomAD v4:
11-17397017-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17397017C>T , CM000673.2:g.17397017C>T | GRCh38 |
| NC_000011.9:g.17418564C>T , CM000673.1:g.17418564C>T | GRCh37 |
| NC_000011.8:g.17375140C>T | NCBI36 |
| NG_008867.1:g.84886G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.3619G>A | ||
| ENST00000528374.2:c.609G>A | ||
| ENST00000529967.6:n.2357G>A | ||
| ENST00000532220.2:n.2266G>A | ||
| ENST00000642611.2:n.4233G>A | ||
| ENST00000644057.2:n.461G>A | ||
| ENST00000645004.2:n.1517G>A | ||
| ENST00000682051.1:n.4180G>A | ||
| ENST00000682110.1:n.4233G>A | ||
| ENST00000682140.1:c.3985+176G>A | ENSP00000507829.1:n.3985+176G>A | |
| ENST00000682185.1:n.5323G>A | ||
| ENST00000682204.1:c.*2156G>A | ENSP00000507094.1:n.*2156G>A | |
| ENST00000682215.1:n.4600G>A | ||
| ENST00000682288.1:c.*2449G>A | ENSP00000507506.1:n.*2449G>A | |
| ENST00000682442.1:n.4453G>A | ||
| ENST00000682528.1:n.4310G>A | ||
| ENST00000682673.1:n.4177G>A | ||
| ENST00000682805.1:n.4600G>A | ||
| ENST00000682965.1:c.*440G>A | ENSP00000508229.1:n.*440G>A | |
| ENST00000683093.1:n.4332G>A | ||
| ENST00000683136.1:c.3901G>A | ENSP00000507768.1:p.Asp1301Asn | |
| ENST00000683153.1:n.4275G>A | ||
| ENST00000683365.1:n.4335G>A | ||
| ENST00000683377.1:n.4233G>A | ||
| ENST00000683456.1:c.*1155G>A | ENSP00000508318.1:n.*1155G>A | |
| ENST00000683522.1:n.4233G>A | ||
| ENST00000683562.1:c.*2187G>A | ENSP00000508265.1:n.*2187G>A | |
| ENST00000683693.1:n.4680G>A | ||
| ENST00000683725.1:c.4018G>A | ENSP00000507496.1:p.Asp1340Asn | |
| ENST00000684010.1:n.4228G>A | ||
| ENST00000684157.1:n.4233G>A | ||
| ENST00000684253.1:n.4136G>A | ||
| ENST00000684288.1:c.*2190G>A | ENSP00000507143.1:n.*2190G>A | |
| ENST00000684313.1:n.3665G>A | ||
| ENST00000684332.1:n.4306G>A | ||
| ENST00000684371.1:n.4339G>A | ||
| ENST00000684404.1:n.4276G>A | ||
| ENST00000684442.1:n.4457G>A | ||
| ENST00000684555.1:c.*2230G>A | ENSP00000507705.1:n.*2230G>A | |
| ENST00000684571.1:c.3859G>A | ENSP00000506935.1:p.Asp1287Asn | |
| ENST00000684593.1:c.*3723G>A | ENSP00000507005.1:n.*3723G>A | |
| ENST00000684711.1:c.*2414G>A | ENSP00000506841.1:n.*2414G>A | |
| ENST00000302539.9:c.4021G>A | ENSP00000303960.4:p.Asp1341Asn | |
| ENST00000389817.8:c.4018G>A MANE Select | ENSP00000374467.4:p.Asp1340Asn | |
| ENST00000642271.1:c.4015G>A | ENSP00000493749.1:p.Asp1339Asn | |
| ENST00000642579.1:c.2073-1G>A | ||
| ENST00000642611.1:n.4118G>A | ||
| ENST00000642902.1:c.3800G>A | ||
| ENST00000643260.1:c.4018G>A | ENSP00000494450.1:p.Asp1340Asn | |
| ENST00000643562.1:c.*2140G>A | ENSP00000496124.1:n.*2140G>A | |
| ENST00000643925.1:c.2658G>A | ||
| ENST00000644057.1:n.95G>A | ||
| ENST00000644484.1:c.*2419G>A | ENSP00000493558.1:n.*2419G>A | |
| ENST00000644675.1:c.*2190G>A | ENSP00000494567.1:n.*2190G>A | |
| ENST00000644757.1:c.*2449G>A | ENSP00000495085.1:n.*2449G>A | |
| ENST00000644772.1:c.4084G>A | ENSP00000494321.1:p.Asp1362Asn | |
| ENST00000645004.1:n.1673G>A | ||
| ENST00000645076.1:c.3217G>A | ||
| ENST00000645417.1:c.1206G>A | ||
| ENST00000645744.1:c.*2798G>A | ENSP00000494564.1:n.*2798G>A | |
| ENST00000645760.1:c.4439G>A | ||
| ENST00000645884.1:c.*1301G>A | ENSP00000495516.1:n.*1301G>A | |
| ENST00000646003.1:c.*2120G>A | ENSP00000495259.1:n.*2120G>A | |
| ENST00000646207.1:c.*2855G>A | ENSP00000495025.1:n.*2855G>A | |
| ENST00000646276.1:c.*2437G>A | ENSP00000496070.1:n.*2437G>A | |
| ENST00000646592.1:c.3324G>A | ||
| ENST00000646902.1:c.3986-1G>A | ENSP00000494101.1:n.3986-1G>A | |
| ENST00000646993.1:c.*2560G>A | ENSP00000493720.1:n.*2560G>A | |
| ENST00000647013.1:c.4024G>A | ENSP00000496741.1:n.4024G>A | |
| ENST00000647015.1:c.3769G>A | ENSP00000495389.1:p.Asp1257Asn | |
| ENST00000647086.1:c.*3605-1G>A | ENSP00000493677.1:n.*3605-1G>A | |
| ENST00000647158.1:c.*2305G>A | ENSP00000495744.1:n.*2305G>A | |
| ENST00000302539.8:c.4021G>A | ENSP00000303960.4:p.Asp1341Asn | |
| ENST00000389817.7:c.4018G>A | ENSP00000374467.3:p.Asp1340Asn | |
| ENST00000527905.5:c.*1040G>A | ENSP00000431653.1:n.*1040G>A | |
| ENST00000528374.1:c.500G>A | ||
| ENST00000531137.1:n.583G>A | ||
| ENST00000531891.1:c.357-1G>A | ||
| ENST00000532220.1:n.492G>A | ||
| NM_000352.4:c.4018G>A | NP_000343.2:p.Asp1340Asn | |
| NM_001287174.1:c.4021G>A | NP_001274103.1:p.Asp1341Asn | |
| XM_011520331.1:c.4018G>A | XP_011518633.1:p.Asp1340Asn | |
| XM_011520332.1:c.4021G>A | XP_011518634.1:p.Asp1341Asn | |
| XM_011520333.1:c.2518G>A | XP_011518635.1:p.Asp840Asn | |
| XR_930890.1:n.4084G>A | ||
| NM_001351295.1:c.4084G>A | NP_001338224.1:p.Asp1362Asn | |
| NM_001351296.1:c.4018G>A | NP_001338225.1:p.Asp1340Asn | |
| NM_001351297.1:c.4015G>A | NP_001338226.1:p.Asp1339Asn | |
| NR_147094.1:n.4313G>A | ||
| XM_017018197.2:c.4087G>A | XP_016873686.1:p.Asp1363Asn | |
| XM_017018199.1:c.4084G>A | XP_016873688.1:p.Asp1362Asn | |
| XM_017018201.2:c.4087G>A | XP_016873690.1:p.Asp1363Asn | |
| XM_017018202.1:c.2584G>A | XP_016873691.1:p.Asp862Asn | |
| XM_017018204.1:c.1975G>A | XP_016873693.1:p.Asp659Asn | |
| XM_024448668.1:c.2386G>A | XP_024304436.1:p.Asp796Asn | |
| XR_001747945.2:n.4159G>A | ||
| XR_001747946.2:n.4090G>A | ||
| XR_002957189.1:n.4755G>A | ||
| NM_000352.6:c.4018G>A MANE Select | NP_000343.2:p.Asp1340Asn | |
| NM_001287174.2:c.4021G>A | NP_001274103.1:p.Asp1341Asn | |
| NM_001351295.2:c.4084G>A | NP_001338224.1:p.Asp1362Asn | |
| NM_001351296.2:c.4018G>A | NP_001338225.1:p.Asp1340Asn | |
| NM_001351297.2:c.4015G>A | NP_001338226.1:p.Asp1339Asn | |
| NR_147094.2:n.4313G>A | ||
| NM_001287174.3:c.4021G>A | NP_001274103.1:p.Asp1341Asn |