This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier:
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Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.[55269902T>C;55269922A>C;55269931A>C] , CM000680.2:g.[55269902T>C;55269922A>C;55269931A>C] | GRCh38 |
| NC_000018.9:g.[52937133T>C;52937153A>C;52937162A>C] , CM000680.1:g.[52937133T>C;52937153A>C;52937162A>C] | GRCh37 |
| NC_000018.8:g.[51088131T>C;51088151A>C;51088160A>C] | NCBI36 |
| NG_011716.1:g.[323699T>G;323708T>G;323728A>G] | |
| NG_011716.2:g.[371063T>G;371072T>G;371092A>G] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354452.8:c.[822T>G;831T>G;851A>G] MANE Select | ENSP00000346440.3:p.[Asn274Lys;Leu277=;His284Arg] | |
| ENST00000630720.3:c.[342T>G;351T>G;371A>G] | ENSP00000487218.1:p.[Asn114Lys;Leu117=;His124Arg] | |
| ENST00000635822.2:c.[822T>G;831T>G;851A>G] | ENSP00000490451.1:p.[Asn274Lys;Leu277=;His284Arg] | |
| ENST00000635990.2:n.[502T>G;511T>G;531A>G] | ||
| ENST00000636400.2:c.[750T>G;759T>G;779A>G] | ENSP00000490006.1:p.[Asn250Lys;Leu253=;His260Arg] | |
| ENST00000636751.2:c.[*530T>G;*539T>G;*559A>G] | ENSP00000489783.1:n.[*530T>G;*539T>G;*559A>G] | |
| ENST00000636822.2:c.[432T>G;441T>G;461A>G] | ENSP00000490883.1:p.[Asn144Lys;Leu147=;His154Arg] | |
| ENST00000637115.2:c.[*712T>G;*721T>G;*741A>G] | ENSP00000490234.1:n.[*712T>G;*721T>G;*741A>G] | |
| ENST00000637169.2:c.[174T>G;183T>G;203A>G] | ENSP00000490832.1:p.[Asn58Lys;Leu61=;His68Arg] | |
| ENST00000637239.2:n.[889T>G;898T>G;918A>G] | ||
| ENST00000637250.2:n.[516T>G;525T>G;545A>G] | ||
| ENST00000637923.2:c.[420T>G;429T>G;449A>G] | ||
| ENST00000638154.3:c.[852T>G;861T>G;881A>G] | ENSP00000490625.2:p.[Asn284Lys;Leu287=;His294Arg] | |
| ENST00000643689.1:c.[432T>G;441T>G;461A>G] | ENSP00000494380.1:p.[Asn144Lys;Leu147=;His154Arg] | |
| ENST00000674764.1:c.[*433T>G;*442T>G;*462A>G] | ENSP00000502213.1:n.[*433T>G;*442T>G;*462A>G] | |
| ENST00000675707.1:c.[432T>G;441T>G;461A>G] | ENSP00000501758.1:p.[Asn144Lys;Leu147=;His154Arg] | |
| ENST00000354452.7:c.[822T>G;831T>G;851A>G] | ENSP00000346440.3:p.[Asn274Lys;Leu277=;His284Arg] | |
| ENST00000356073.8:c.[822T>G;831T>G;851A>G] | ENSP00000348374.4:p.[Asn274Lys;Leu277=;His284Arg] | |
| ENST00000398339.5:c.[1128T>G;1137T>G;1157A>G] | ENSP00000381382.1:p.[Asn376Lys;Leu379=;His386Arg] | |
| ENST00000457482.7:c.[342T>G;351T>G;371A>G] | ENSP00000409447.2:p.[Asn114Lys;Leu117=;His124Arg] | |
| ENST00000537578.5:c.[750T>G;759T>G;779A>G] | ENSP00000440731.1:p.[Asn250Lys;Leu253=;His260Arg] | |
| ENST00000537856.7:c.[432T>G;441T>G;461A>G] | ENSP00000439827.2:p.[Asn144Lys;Leu147=;His154Arg] | |
| ENST00000540999.5:c.[750T>G;759T>G;779A>G] | ENSP00000445202.1:p.[Asn250Lys;Leu253=;His260Arg] | |
| ENST00000543082.5:c.[696T>G;705T>G;725A>G] | ENSP00000439656.1:p.[Asn232Lys;Leu235=;His242Arg] | |
| ENST00000544241.6:c.[609T>G;618T>G;638A>G] | ENSP00000441562.2:p.[Asn203Lys;Leu206=;His213Arg] | |
| ENST00000561831.7:c.[342T>G;351T>G;371A>G] | ENSP00000457765.1:p.[Asn114Lys;Leu117=;His124Arg] | |
| ENST00000561992.5:c.[432T>G;441T>G;461A>G] | ENSP00000455179.1:p.[Asn144Lys;Leu147=;His154Arg] | |
| ENST00000562030.3:c.[432T>G;441T>G;461A>G] | ENSP00000456220.2:p.[Asn144Lys;Leu147=;His154Arg] | |
| ENST00000562607.5:c.[432T>G;441T>G;461A>G] | ENSP00000455071.2:p.[Asn144Lys;Leu147=;His154Arg] | |
| ENST00000562680.5:n.[913T>G;922T>G;942A>G] | ||
| ENST00000563686.5:n.[677T>G;686T>G;706A>G] | ||
| ENST00000563760.5:n.[414T>G;423T>G;443A>G] | ||
| ENST00000564228.5:c.[609T>G;618T>G;638A>G] | ENSP00000455261.1:p.[Asn203Lys;Leu206=;His213Arg] | |
| ENST00000564403.6:c.[840T>G;849T>G;869A>G] | ENSP00000457263.1:p.[Asn280Lys;Leu283=;His290Arg] | |
| ENST00000564999.5:c.[822T>G;831T>G;851A>G] | ENSP00000457649.1:p.[Asn274Lys;Leu277=;His284Arg] | |
| ENST00000565018.6:c.[570T>G;579T>G;599A>G] | ENSP00000455984.2:p.[Asn190Lys;Leu193=;His200Arg] | |
| ENST00000566279.5:c.[642T>G;651T>G;671A>G] | ENSP00000456125.1:p.[Asn214Lys;Leu217=;His224Arg] | |
| ENST00000566286.5:c.[816T>G;825T>G;845A>G] | ENSP00000455418.2:p.[Asn272Lys;Leu275=;His282Arg] | |
| ENST00000566514.5:c.[783T>G;792T>G;812A>G] | ENSP00000456983.2:p.[Asn261Lys;Leu264=;His271Arg] | |
| ENST00000567880.5:c.[642T>G;651T>G;671A>G] | ENSP00000454366.1:p.[Asn214Lys;Leu217=;His224Arg] | |
| ENST00000568673.5:c.[750T>G;759T>G;779A>G] | ENSP00000455135.1:p.[Asn250Lys;Leu253=;His260Arg] | |
| ENST00000568740.5:c.[747T>G;756T>G;776A>G] | ENSP00000455346.1:p.[Asn249Lys;Leu252=;His259Arg] | |
| ENST00000569012.5:c.[432T>G;441T>G;461A>G] | ENSP00000455304.1:p.[Asn144Lys;Leu147=;His154Arg] | |
| ENST00000570146.3:c.[86T>G;95T>G;115A>G] | ||
| ENST00000570177.6:c.[432T>G;441T>G;461A>G] | ENSP00000454647.1:p.[Asn144Lys;Leu147=;His154Arg] | |
| ENST00000570287.6:c.[342T>G;351T>G;371A>G] | ENSP00000455763.1:p.[Asn114Lys;Leu117=;His124Arg] | |
| ENST00000616053.4:c.[570T>G;579T>G;599A>G] | ENSP00000478549.1:p.[Asn190Lys;Leu193=;His200Arg] | |
| ENST00000625849.2:n.[682T>G;691T>G;711A>G] | ||
| ENST00000626584.2:c.[174T>G;183T>G;203A>G] | ENSP00000486072.1:p.[Asn58Lys;Leu61=;His68Arg] | |
| ENST00000627136.2:n.[524-8398T>G;524-8389T>G;524-8369A>G] | ||
| ENST00000628078.2:c.[432T>G;441T>G;461A>G] | ENSP00000486909.1:p.[Asn144Lys;Leu147=;His154Arg] | |
| ENST00000628636.2:c.[432T>G;441T>G;461A>G] | ENSP00000485755.1:p.[Asn144Lys;Leu147=;His154Arg] | |
| ENST00000628689.2:c.[208T>G;217T>G;237A>G] | ENSP00000487010.1:p.[Phe70Val;Ser73Ala;Pro79=] | |
| ENST00000629343.2:c.[432T>G;441T>G;461A>G] | ENSP00000486148.1:p.[Asn144Lys;Leu147=;His154Arg] | |
| ENST00000629387.2:c.[822T>G;831T>G;851A>G] | ENSP00000486670.1:p.[Asn274Lys;Leu277=;His284Arg] | |
| ENST00000630268.2:c.[432T>G;441T>G;461A>G] | ENSP00000486405.1:p.[Asn144Lys;Leu147=;His154Arg] | |
| ENST00000630720.2:c.[342T>G;351T>G;371A>G] | ENSP00000487218.1:p.[Asn114Lys;Leu117=;His124Arg] | |
| ENST00000630828.2:c.[612T>G;621T>G;641A>G] | ENSP00000486974.1:p.[Asn204Lys;Leu207=;His214Arg] | |
| NM_001083962.1:c.[822T>G;831T>G;851A>G] | NP_001077431.1:p.[Asn274Lys;Leu277=;His284Arg] | |
| NM_001243226.2:c.[1128T>G;1137T>G;1157A>G] | NP_001230155.2:p.[Asn376Lys;Leu379=;His386Arg] | |
| NM_001243227.1:c.[750T>G;759T>G;779A>G] | NP_001230156.1:p.[Asn250Lys;Leu253=;His260Arg] | |
| NM_001243228.1:c.[840T>G;849T>G;869A>G] | NP_001230157.1:p.[Asn280Lys;Leu283=;His290Arg] | |
| NM_001243230.1:c.[816T>G;825T>G;845A>G] | NP_001230159.1:p.[Asn272Lys;Leu275=;His282Arg] | |
| NM_001243231.1:c.[696T>G;705T>G;725A>G] | NP_001230160.1:p.[Asn232Lys;Leu235=;His242Arg] | |
| NM_001243232.1:c.[609T>G;618T>G;638A>G] | NP_001230161.1:p.[Asn203Lys;Leu206=;His213Arg] | |
| NM_001243233.1:c.[432T>G;441T>G;461A>G] | NP_001230162.1:p.[Asn144Lys;Leu147=;His154Arg] | |
| NM_001243234.1:c.[342T>G;351T>G;371A>G] | NP_001230163.1:p.[Asn114Lys;Leu117=;His124Arg] | |
| NM_001243235.1:c.[342T>G;351T>G;371A>G] | NP_001230164.1:p.[Asn114Lys;Leu117=;His124Arg] | |
| NM_001243236.1:c.[342T>G;351T>G;371A>G] | NP_001230165.1:p.[Asn114Lys;Leu117=;His124Arg] | |
| NM_001306207.1:c.[750T>G;759T>G;779A>G] | NP_001293136.1:p.[Asn250Lys;Leu253=;His260Arg] | |
| NM_001306208.1:c.[609T>G;618T>G;638A>G] | NP_001293137.1:p.[Asn203Lys;Leu206=;His213Arg] | |
| NM_003199.2:c.[822T>G;831T>G;851A>G] | NP_003190.1:p.[Asn274Lys;Leu277=;His284Arg] | |
| XM_005266739.3:c.[750T>G;759T>G;779A>G] | XP_005266796.2:p.[Asn250Lys;Leu253=;His260Arg] | |
| XM_005266741.3:c.[819T>G;828T>G;848A>G] | XP_005266798.1:p.[Asn273Lys;Leu276=;His283Arg] | |
| XM_005266743.3:c.[750T>G;759T>G;779A>G] | XP_005266800.1:p.[Asn250Lys;Leu253=;His260Arg] | |
| XM_005266744.3:c.[750T>G;759T>G;779A>G] | XP_005266801.1:p.[Asn250Lys;Leu253=;His260Arg] | |
| XM_005266745.3:c.[747T>G;756T>G;776A>G] | XP_005266802.1:p.[Asn249Lys;Leu252=;His259Arg] | |
| XM_005266747.3:c.[696T>G;705T>G;725A>G] | XP_005266804.1:p.[Asn232Lys;Leu235=;His242Arg] | |
| XM_005266749.3:c.[612T>G;621T>G;641A>G] | XP_005266806.1:p.[Asn204Lys;Leu207=;His214Arg] | |
| XM_005266752.3:c.[432T>G;441T>G;461A>G] | XP_005266809.1:p.[Asn144Lys;Leu147=;His154Arg] | |
| XM_005266754.3:c.[432T>G;441T>G;461A>G] | XP_005266811.1:p.[Asn144Lys;Leu147=;His154Arg] | |
| XM_005266755.3:c.[432T>G;441T>G;461A>G] | XP_005266812.1:p.[Asn144Lys;Leu147=;His154Arg] | |
| XM_005266761.3:c.[342T>G;351T>G;371A>G] | XP_005266818.1:p.[Asn114Lys;Leu117=;His124Arg] | |
| XM_006722536.2:c.[822T>G;831T>G;851A>G] | XP_006722599.1:p.[Asn274Lys;Leu277=;His284Arg] | |
| XM_006722537.2:c.[822T>G;831T>G;851A>G] | XP_006722600.1:p.[Asn274Lys;Leu277=;His284Arg] | |
| XM_006722538.2:c.[747T>G;756T>G;776A>G] | XP_006722601.1:p.[Asn249Lys;Leu252=;His259Arg] | |
| XM_006722539.2:c.[432T>G;441T>G;461A>G] | XP_006722602.1:p.[Asn144Lys;Leu147=;His154Arg] | |
| XM_006722540.2:c.[432T>G;441T>G;461A>G] | XP_006722603.1:p.[Asn144Lys;Leu147=;His154Arg] | |
| XM_011526154.1:c.[1125T>G;1134T>G;1154A>G] | XP_011524456.1:p.[Asn375Lys;Leu378=;His385Arg] | |
| XM_011526155.1:c.[1128T>G;1137T>G;1157A>G] | XP_011524457.1:p.[Asn376Lys;Leu379=;His386Arg] | |
| XM_011526156.1:c.[1128T>G;1137T>G;1157A>G] | XP_011524458.1:p.[Asn376Lys;Leu379=;His386Arg] | |
| XM_011526157.1:c.[1125T>G;1134T>G;1154A>G] | XP_011524459.1:p.[Asn375Lys;Leu378=;His385Arg] | |
| XM_011526158.1:c.[816T>G;825T>G;845A>G] | XP_011524460.1:p.[Asn272Lys;Leu275=;His282Arg] | |
| XM_011526159.1:c.[432T>G;441T>G;461A>G] | XP_011524461.1:p.[Asn144Lys;Leu147=;His154Arg] | |
| XM_011526160.1:c.[432T>G;441T>G;461A>G] | XP_011524462.1:p.[Asn144Lys;Leu147=;His154Arg] | |
| XM_011526161.1:c.[432T>G;441T>G;461A>G] | XP_011524463.1:p.[Asn144Lys;Leu147=;His154Arg] | |
| XM_011526162.1:c.[432T>G;441T>G;461A>G] | XP_011524464.1:p.[Asn144Lys;Leu147=;His154Arg] | |
| XM_011526163.1:c.[432T>G;441T>G;461A>G] | XP_011524465.1:p.[Asn144Lys;Leu147=;His154Arg] | |
| XM_011526164.1:c.[432T>G;441T>G;461A>G] | XP_011524466.1:p.[Asn144Lys;Leu147=;His154Arg] | |
| NM_001330604.2:c.[822T>G;831T>G;851A>G] | NP_001317533.1:p.[Asn274Lys;Leu277=;His284Arg] | |
| NM_001330605.2:c.[432T>G;441T>G;461A>G] | NP_001317534.1:p.[Asn144Lys;Leu147=;His154Arg] | |
| NM_001348211.1:c.[696T>G;705T>G;725A>G] | NP_001335140.1:p.[Asn232Lys;Leu235=;His242Arg] | |
| NM_001348212.1:c.[432T>G;441T>G;461A>G] | NP_001335141.1:p.[Asn144Lys;Leu147=;His154Arg] | |
| NM_001348213.1:c.[432T>G;441T>G;461A>G] | NP_001335142.1:p.[Asn144Lys;Leu147=;His154Arg] | |
| NM_001348214.1:c.[342T>G;351T>G;371A>G] | NP_001335143.1:p.[Asn114Lys;Leu117=;His124Arg] | |
| NM_001348215.1:c.[174T>G;183T>G;203A>G] | NP_001335144.1:p.[Asn58Lys;Leu61=;His68Arg] | |
| NM_001348216.1:c.[342T>G;351T>G;371A>G] | NP_001335145.1:p.[Asn114Lys;Leu117=;His124Arg] | |
| NM_001348217.1:c.[750T>G;759T>G;779A>G] | NP_001335146.1:p.[Asn250Lys;Leu253=;His260Arg] | |
| NM_001348218.1:c.[750T>G;759T>G;779A>G] | NP_001335147.1:p.[Asn250Lys;Leu253=;His260Arg] | |
| NM_001348219.1:c.[750T>G;759T>G;779A>G] | NP_001335148.1:p.[Asn250Lys;Leu253=;His260Arg] | |
| NM_001348220.1:c.[747T>G;756T>G;776A>G] | NP_001335149.1:p.[Asn249Lys;Leu252=;His259Arg] | |
| XM_005266739.4:c.[750T>G;759T>G;779A>G] | XP_005266796.2:p.[Asn250Lys;Leu253=;His260Arg] | |
| XM_005266741.4:c.[819T>G;828T>G;848A>G] | XP_005266798.1:p.[Asn273Lys;Leu276=;His283Arg] | |
| XM_005266745.4:c.[747T>G;756T>G;776A>G] | XP_005266802.1:p.[Asn249Lys;Leu252=;His259Arg] | |
| XM_005266749.4:c.[612T>G;621T>G;641A>G] | XP_005266806.1:p.[Asn204Lys;Leu207=;His214Arg] | |
| XM_005266752.5:c.[432T>G;441T>G;461A>G] | XP_005266809.1:p.[Asn144Lys;Leu147=;His154Arg] | |
| XM_005266755.5:c.[432T>G;441T>G;461A>G] | XP_005266812.1:p.[Asn144Lys;Leu147=;His154Arg] | |
| XM_005266761.4:c.[342T>G;351T>G;371A>G] | XP_005266818.1:p.[Asn114Lys;Leu117=;His124Arg] | |
| XM_006722536.3:c.[822T>G;831T>G;851A>G] | XP_006722599.1:p.[Asn274Lys;Leu277=;His284Arg] | |
| XM_006722537.3:c.[822T>G;831T>G;851A>G] | XP_006722600.1:p.[Asn274Lys;Leu277=;His284Arg] | |
| XM_006722538.3:c.[747T>G;756T>G;776A>G] | XP_006722601.1:p.[Asn249Lys;Leu252=;His259Arg] | |
| XM_017025934.2:c.[747T>G;756T>G;776A>G] | XP_016881423.1:p.[Asn249Lys;Leu252=;His259Arg] | |
| XM_017025935.2:c.[750T>G;759T>G;779A>G] | XP_016881424.1:p.[Asn250Lys;Leu253=;His260Arg] | |
| XM_017025936.2:c.[750T>G;759T>G;779A>G] | XP_016881425.1:p.[Asn250Lys;Leu253=;His260Arg] | |
| XM_017025937.2:c.[747T>G;756T>G;776A>G] | XP_016881426.1:p.[Asn249Lys;Leu252=;His259Arg] | |
| XM_017025938.2:c.[819T>G;828T>G;848A>G] | XP_016881427.1:p.[Asn273Lys;Leu276=;His283Arg] | |
| XM_017025940.2:c.[822T>G;831T>G;851A>G] | XP_016881429.1:p.[Asn274Lys;Leu277=;His284Arg] | |
| XM_017025941.2:c.[822T>G;831T>G;851A>G] | XP_016881430.1:p.[Asn274Lys;Leu277=;His284Arg] | |
| XM_017025942.2:c.[819T>G;828T>G;848A>G] | XP_016881431.1:p.[Asn273Lys;Leu276=;His283Arg] | |
| XM_017025943.2:c.[822T>G;831T>G;851A>G] | XP_016881432.1:p.[Asn274Lys;Leu277=;His284Arg] | |
| XM_017025944.2:c.[747T>G;756T>G;776A>G] | XP_016881433.1:p.[Asn249Lys;Leu252=;His259Arg] | |
| XM_017025945.2:c.[750T>G;759T>G;779A>G] | XP_016881434.1:p.[Asn250Lys;Leu253=;His260Arg] | |
| XM_017025946.2:c.[750T>G;759T>G;779A>G] | XP_016881435.1:p.[Asn250Lys;Leu253=;His260Arg] | |
| XM_017025948.2:c.[747T>G;756T>G;776A>G] | XP_016881437.1:p.[Asn249Lys;Leu252=;His259Arg] | |
| XM_017025950.2:c.[747T>G;756T>G;776A>G] | XP_016881439.1:p.[Asn249Lys;Leu252=;His259Arg] | |
| XM_017025951.2:c.[696T>G;705T>G;725A>G] | XP_016881440.1:p.[Asn232Lys;Leu235=;His242Arg] | |
| XM_017025952.2:c.[609T>G;618T>G;638A>G] | XP_016881441.1:p.[Asn203Lys;Leu206=;His213Arg] | |
| XM_017025953.2:c.[612T>G;621T>G;641A>G] | XP_016881442.1:p.[Asn204Lys;Leu207=;His214Arg] | |
| XM_017025954.2:c.[432T>G;441T>G;461A>G] | XP_016881443.1:p.[Asn144Lys;Leu147=;His154Arg] | |
| XM_017025956.2:c.[432T>G;441T>G;461A>G] | XP_016881445.1:p.[Asn144Lys;Leu147=;His154Arg] | |
| XM_024451240.1:c.[750T>G;759T>G;779A>G] | XP_024307008.1:p.[Asn250Lys;Leu253=;His260Arg] | |
| XM_024451241.1:c.[585T>G;594T>G;614A>G] | XP_024307009.1:p.[Asn195Lys;Leu198=;His205Arg] | |
| NM_001083962.2:c.[822T>G;831T>G;851A>G] MANE Select | NP_001077431.1:p.[Asn274Lys;Leu277=;His284Arg] | |
| NM_001243226.3:c.[1128T>G;1137T>G;1157A>G] | NP_001230155.2:p.[Asn376Lys;Leu379=;His386Arg] | |
| NM_001243227.2:c.[750T>G;759T>G;779A>G] | NP_001230156.1:p.[Asn250Lys;Leu253=;His260Arg] | |
| NM_001243228.2:c.[840T>G;849T>G;869A>G] | NP_001230157.1:p.[Asn280Lys;Leu283=;His290Arg] | |
| NM_001243231.2:c.[696T>G;705T>G;725A>G] | NP_001230160.1:p.[Asn232Lys;Leu235=;His242Arg] | |
| NM_001243233.2:c.[432T>G;441T>G;461A>G] | NP_001230162.1:p.[Asn144Lys;Leu147=;His154Arg] | |
| NM_001243234.2:c.[342T>G;351T>G;371A>G] | NP_001230163.1:p.[Asn114Lys;Leu117=;His124Arg] | |
| NM_001243235.2:c.[342T>G;351T>G;371A>G] | NP_001230164.1:p.[Asn114Lys;Leu117=;His124Arg] | |
| NM_001243236.2:c.[342T>G;351T>G;371A>G] | NP_001230165.1:p.[Asn114Lys;Leu117=;His124Arg] | |
| NM_001330604.3:c.[822T>G;831T>G;851A>G] | NP_001317533.1:p.[Asn274Lys;Leu277=;His284Arg] | |
| NM_001330605.3:c.[432T>G;441T>G;461A>G] | NP_001317534.1:p.[Asn144Lys;Leu147=;His154Arg] | |
| NM_001348211.2:c.[696T>G;705T>G;725A>G] | NP_001335140.1:p.[Asn232Lys;Leu235=;His242Arg] | |
| NM_001348212.2:c.[432T>G;441T>G;461A>G] | NP_001335141.1:p.[Asn144Lys;Leu147=;His154Arg] | |
| NM_001348213.2:c.[432T>G;441T>G;461A>G] | NP_001335142.1:p.[Asn144Lys;Leu147=;His154Arg] | |
| NM_001348214.2:c.[342T>G;351T>G;371A>G] | NP_001335143.1:p.[Asn114Lys;Leu117=;His124Arg] | |
| NM_001348215.2:c.[174T>G;183T>G;203A>G] | NP_001335144.1:p.[Asn58Lys;Leu61=;His68Arg] | |
| NM_001348216.2:c.[342T>G;351T>G;371A>G] | NP_001335145.1:p.[Asn114Lys;Leu117=;His124Arg] | |
| NM_001348218.2:c.[750T>G;759T>G;779A>G] | NP_001335147.1:p.[Asn250Lys;Leu253=;His260Arg] | |
| NM_001348219.2:c.[750T>G;759T>G;779A>G] | NP_001335148.1:p.[Asn250Lys;Leu253=;His260Arg] | |
| NM_001369567.1:c.[822T>G;831T>G;851A>G] | NP_001356496.1:p.[Asn274Lys;Leu277=;His284Arg] | |
| NM_001369568.1:c.[822T>G;831T>G;851A>G] | NP_001356497.1:p.[Asn274Lys;Leu277=;His284Arg] | |
| NM_001369569.1:c.[819T>G;828T>G;848A>G] | NP_001356498.1:p.[Asn273Lys;Leu276=;His283Arg] | |
| NM_001369570.1:c.[819T>G;828T>G;848A>G] | NP_001356499.1:p.[Asn273Lys;Leu276=;His283Arg] | |
| NM_001369571.1:c.[822T>G;831T>G;851A>G] | NP_001356500.1:p.[Asn274Lys;Leu277=;His284Arg] | |
| NM_001369572.1:c.[822T>G;831T>G;851A>G] | NP_001356501.1:p.[Asn274Lys;Leu277=;His284Arg] | |
| NM_001369573.1:c.[819T>G;828T>G;848A>G] | NP_001356502.1:p.[Asn273Lys;Leu276=;His283Arg] | |
| NM_001369574.1:c.[822T>G;831T>G;851A>G] | NP_001356503.1:p.[Asn274Lys;Leu277=;His284Arg] | |
| NM_001369575.1:c.[750T>G;759T>G;779A>G] | NP_001356504.1:p.[Asn250Lys;Leu253=;His260Arg] | |
| NM_001369576.1:c.[747T>G;756T>G;776A>G] | NP_001356505.1:p.[Asn249Lys;Leu252=;His259Arg] | |
| NM_001369577.1:c.[750T>G;759T>G;779A>G] | NP_001356506.1:p.[Asn250Lys;Leu253=;His260Arg] | |
| NM_001369578.1:c.[747T>G;756T>G;776A>G] | NP_001356507.1:p.[Asn249Lys;Leu252=;His259Arg] | |
| NM_001369579.1:c.[750T>G;759T>G;779A>G] | NP_001356508.1:p.[Asn250Lys;Leu253=;His260Arg] | |
| NM_001369580.1:c.[750T>G;759T>G;779A>G] | NP_001356509.1:p.[Asn250Lys;Leu253=;His260Arg] | |
| NM_001369581.1:c.[747T>G;756T>G;776A>G] | NP_001356510.1:p.[Asn249Lys;Leu252=;His259Arg] | |
| NM_001369582.1:c.[750T>G;759T>G;779A>G] | NP_001356511.1:p.[Asn250Lys;Leu253=;His260Arg] | |
| NM_001369583.1:c.[750T>G;759T>G;779A>G] | NP_001356512.1:p.[Asn250Lys;Leu253=;His260Arg] | |
| NM_001369584.1:c.[747T>G;756T>G;776A>G] | NP_001356513.1:p.[Asn249Lys;Leu252=;His259Arg] | |
| NM_001369585.1:c.[747T>G;756T>G;776A>G] | NP_001356514.1:p.[Asn249Lys;Leu252=;His259Arg] | |
| NM_001369586.1:c.[750T>G;759T>G;779A>G] | NP_001356515.1:p.[Asn250Lys;Leu253=;His260Arg] | |
| NM_003199.3:c.[822T>G;831T>G;851A>G] | NP_003190.1:p.[Asn274Lys;Leu277=;His284Arg] | |
| NM_001243230.2:c.[816T>G;825T>G;845A>G] | NP_001230159.1:p.[Asn272Lys;Leu275=;His282Arg] |