Linked Data
ClinVar Variation Id:
9098
dbSNP Id:
rs28936370
ExAC:
11:17418527 C / T
gnomAD v2:
11-17418527-C-T
gnomAD v4:
11-17396980-C-T
PubMed:
PMID:15356046
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17396980C>T , CM000673.2:g.17396980C>T | GRCh38 |
| NC_000011.9:g.17418527C>T , CM000673.1:g.17418527C>T | GRCh37 |
| NC_000011.8:g.17375103C>T | NCBI36 |
| NG_008867.1:g.84923G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.3656G>A | ||
| ENST00000528374.2:c.646G>A | ||
| ENST00000529967.6:n.2394G>A | ||
| ENST00000532220.2:n.2303G>A | ||
| ENST00000642611.2:n.4270G>A | ||
| ENST00000644057.2:n.498G>A | ||
| ENST00000645004.2:n.1554G>A | ||
| ENST00000682051.1:n.4217G>A | ||
| ENST00000682110.1:n.4270G>A | ||
| ENST00000682140.1:c.3985+213G>A | ENSP00000507829.1:n.3985+213G>A | |
| ENST00000682185.1:n.5360G>A | ||
| ENST00000682204.1:c.*2193G>A | ENSP00000507094.1:n.*2193G>A | |
| ENST00000682215.1:n.4637G>A | ||
| ENST00000682288.1:c.*2486G>A | ENSP00000507506.1:n.*2486G>A | |
| ENST00000682442.1:n.4490G>A | ||
| ENST00000682528.1:n.4347G>A | ||
| ENST00000682673.1:n.4214G>A | ||
| ENST00000682805.1:n.4637G>A | ||
| ENST00000682965.1:c.*477G>A | ENSP00000508229.1:n.*477G>A | |
| ENST00000683093.1:n.4369G>A | ||
| ENST00000683136.1:c.3938G>A | ENSP00000507768.1:p.Arg1313His | |
| ENST00000683153.1:n.4312G>A | ||
| ENST00000683365.1:n.4372G>A | ||
| ENST00000683377.1:n.4270G>A | ||
| ENST00000683456.1:c.*1192G>A | ENSP00000508318.1:n.*1192G>A | |
| ENST00000683522.1:n.4270G>A | ||
| ENST00000683562.1:c.*2224G>A | ENSP00000508265.1:n.*2224G>A | |
| ENST00000683693.1:n.4717G>A | ||
| ENST00000683725.1:c.4055G>A | ENSP00000507496.1:p.Arg1352His | |
| ENST00000684010.1:n.4265G>A | ||
| ENST00000684157.1:n.4270G>A | ||
| ENST00000684253.1:n.4173G>A | ||
| ENST00000684288.1:c.*2227G>A | ENSP00000507143.1:n.*2227G>A | |
| ENST00000684313.1:n.3702G>A | ||
| ENST00000684332.1:n.4343G>A | ||
| ENST00000684371.1:n.4376G>A | ||
| ENST00000684404.1:n.4313G>A | ||
| ENST00000684442.1:n.4494G>A | ||
| ENST00000684555.1:c.*2267G>A | ENSP00000507705.1:n.*2267G>A | |
| ENST00000684571.1:c.3896G>A | ENSP00000506935.1:p.Arg1299His | |
| ENST00000684593.1:c.*3760G>A | ENSP00000507005.1:n.*3760G>A | |
| ENST00000684711.1:c.*2451G>A | ENSP00000506841.1:n.*2451G>A | |
| ENST00000302539.9:c.4058G>A | ENSP00000303960.4:p.Arg1353His | |
| ENST00000389817.8:c.4055G>A MANE Select | ENSP00000374467.4:p.Arg1352His | |
| ENST00000642271.1:c.4052G>A | ENSP00000493749.1:p.Arg1351His | |
| ENST00000642579.1:c.2109G>A | ||
| ENST00000642611.1:n.4155G>A | ||
| ENST00000642902.1:c.3837G>A | ||
| ENST00000643260.1:c.4055G>A | ENSP00000494450.1:p.Arg1352His | |
| ENST00000643562.1:c.*2177G>A | ENSP00000496124.1:n.*2177G>A | |
| ENST00000643925.1:c.2695G>A | ||
| ENST00000644057.1:n.132G>A | ||
| ENST00000644484.1:c.*2456G>A | ENSP00000493558.1:n.*2456G>A | |
| ENST00000644675.1:c.*2227G>A | ENSP00000494567.1:n.*2227G>A | |
| ENST00000644757.1:c.*2486G>A | ENSP00000495085.1:n.*2486G>A | |
| ENST00000644772.1:c.4121G>A | ENSP00000494321.1:p.Arg1374His | |
| ENST00000645004.1:n.1710G>A | ||
| ENST00000645076.1:c.3254G>A | ||
| ENST00000645417.1:c.1243G>A | ||
| ENST00000645744.1:c.*2835G>A | ENSP00000494564.1:n.*2835G>A | |
| ENST00000645760.1:c.4476G>A | ||
| ENST00000645884.1:c.*1338G>A | ENSP00000495516.1:n.*1338G>A | |
| ENST00000646003.1:c.*2157G>A | ENSP00000495259.1:n.*2157G>A | |
| ENST00000646207.1:c.*2892G>A | ENSP00000495025.1:n.*2892G>A | |
| ENST00000646276.1:c.*2474G>A | ENSP00000496070.1:n.*2474G>A | |
| ENST00000646592.1:c.3361G>A | ||
| ENST00000646902.1:c.4022G>A | ENSP00000494101.1:p.Arg1341His | |
| ENST00000646993.1:c.*2597G>A | ENSP00000493720.1:n.*2597G>A | |
| ENST00000647013.1:c.4061G>A | ENSP00000496741.1:n.4061G>A | |
| ENST00000647015.1:c.3806G>A | ENSP00000495389.1:p.Arg1269His | |
| ENST00000647086.1:c.*3641G>A | ENSP00000493677.1:n.*3641G>A | |
| ENST00000647158.1:c.*2342G>A | ENSP00000495744.1:n.*2342G>A | |
| ENST00000302539.8:c.4058G>A | ENSP00000303960.4:p.Arg1353His | |
| ENST00000389817.7:c.4055G>A | ENSP00000374467.3:p.Arg1352His | |
| ENST00000527905.5:c.*1077G>A | ENSP00000431653.1:n.*1077G>A | |
| ENST00000528374.1:c.537G>A | ||
| ENST00000531137.1:n.620G>A | ||
| ENST00000531891.1:c.393G>A | ||
| ENST00000532220.1:n.529G>A | ||
| NM_000352.4:c.4055G>A | NP_000343.2:p.Arg1352His | |
| NM_001287174.1:c.4058G>A | NP_001274103.1:p.Arg1353His | |
| XM_011520331.1:c.4055G>A | XP_011518633.1:p.Arg1352His | |
| XM_011520332.1:c.4058G>A | XP_011518634.1:p.Arg1353His | |
| XM_011520333.1:c.2555G>A | XP_011518635.1:p.Arg852His | |
| XR_930890.1:n.4121G>A | ||
| NM_001351295.1:c.4121G>A | NP_001338224.1:p.Arg1374His | |
| NM_001351296.1:c.4055G>A | NP_001338225.1:p.Arg1352His | |
| NM_001351297.1:c.4052G>A | NP_001338226.1:p.Arg1351His | |
| NR_147094.1:n.4350G>A | ||
| XM_017018197.2:c.4124G>A | XP_016873686.1:p.Arg1375His | |
| XM_017018199.1:c.4121G>A | XP_016873688.1:p.Arg1374His | |
| XM_017018201.2:c.4124G>A | XP_016873690.1:p.Arg1375His | |
| XM_017018202.1:c.2621G>A | XP_016873691.1:p.Arg874His | |
| XM_017018204.1:c.2012G>A | XP_016873693.1:p.Arg671His | |
| XM_024448668.1:c.2423G>A | XP_024304436.1:p.Arg808His | |
| XR_001747945.2:n.4196G>A | ||
| XR_001747946.2:n.4127G>A | ||
| XR_002957189.1:n.4792G>A | ||
| NM_000352.6:c.4055G>A MANE Select | NP_000343.2:p.Arg1352His | |
| NM_001287174.2:c.4058G>A | NP_001274103.1:p.Arg1353His | |
| NM_001351295.2:c.4121G>A | NP_001338224.1:p.Arg1374His | |
| NM_001351296.2:c.4055G>A | NP_001338225.1:p.Arg1352His | |
| NM_001351297.2:c.4052G>A | NP_001338226.1:p.Arg1351His | |
| NR_147094.2:n.4350G>A | ||
| NM_001287174.3:c.4058G>A | NP_001274103.1:p.Arg1353His |