This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier:
Get Identifier
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.[55269900G>T;55269902T=;55269939C>T] , CM000680.2:g.[55269900G>T;55269902T=;55269939C>T] | GRCh38 |
| NC_000018.9:g.[52937131G>T;52937133T=;52937170C>T] , CM000680.1:g.[52937131G>T;52937133T=;52937170C>T] | GRCh37 |
| NC_000018.8:g.[51088129G>T;51088131T=;51088168C>T] | NCBI36 |
| NG_011716.1:g.[323691G>A;323728A=;323730C>A] | |
| NG_011716.2:g.[371055G>A;371092A=;371094C>A] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354452.8:c.[814G>A;851A=;853C>A] MANE Select | ENSP00000346440.3:p.[Asp272Asn;His284=;Arg285Ser] | |
| ENST00000630720.3:c.[334G>A;371A=;373C>A] | ENSP00000487218.1:p.[Asp112Asn;His124=;Arg125Ser] | |
| ENST00000635822.2:c.[814G>A;851A=;853C>A] | ENSP00000490451.1:p.[Asp272Asn;His284=;Arg285Ser] | |
| ENST00000635990.2:n.[494G>A;531A=;533C>A] | ||
| ENST00000636400.2:c.[742G>A;779A=;781C>A] | ENSP00000490006.1:p.[Asp248Asn;His260=;Arg261Ser] | |
| ENST00000636751.2:c.[*522G>A;*559A=;*561C>A] | ENSP00000489783.1:n.[*522G>A;*559A=;*561C>A] | |
| ENST00000636822.2:c.[424G>A;461A=;463C>A] | ENSP00000490883.1:p.[Asp142Asn;His154=;Arg155Ser] | |
| ENST00000637115.2:c.[*704G>A;*741A=;*743C>A] | ENSP00000490234.1:n.[*704G>A;*741A=;*743C>A] | |
| ENST00000637169.2:c.[166G>A;203A=;205C>A] | ENSP00000490832.1:p.[Asp56Asn;His68=;Arg69Ser] | |
| ENST00000637239.2:n.[881G>A;918A=;920C>A] | ||
| ENST00000637250.2:n.[508G>A;545A=;547C>A] | ||
| ENST00000637923.2:c.[412G>A;449A=;451C>A] | ||
| ENST00000638154.3:c.[844G>A;881A=;883C>A] | ENSP00000490625.2:p.[Asp282Asn;His294=;Arg295Ser] | |
| ENST00000643689.1:c.[424G>A;461A=;463C>A] | ENSP00000494380.1:p.[Asp142Asn;His154=;Arg155Ser] | |
| ENST00000674764.1:c.[*425G>A;*462A=;*464C>A] | ENSP00000502213.1:n.[*425G>A;*462A=;*464C>A] | |
| ENST00000675707.1:c.[424G>A;461A=;463C>A] | ENSP00000501758.1:p.[Asp142Asn;His154=;Arg155Ser] | |
| ENST00000354452.7:c.[814G>A;851A=;853C>A] | ENSP00000346440.3:p.[Asp272Asn;His284=;Arg285Ser] | |
| ENST00000356073.8:c.[814G>A;851A=;853C>A] | ENSP00000348374.4:p.[Asp272Asn;Arg285Ser] | |
| ENST00000398339.5:c.[1120G>A;1157A=;1159C>A] | ENSP00000381382.1:p.[Asp374Asn;His386=;Arg387Ser] | |
| ENST00000457482.7:c.[334G>A;371A=;373C>A] | ENSP00000409447.2:p.[Asp112Asn;His124=;Arg125Ser] | |
| ENST00000537578.5:c.[742G>A;779A=;781C>A] | ENSP00000440731.1:p.[Asp248Asn;His260_Arg261delinsGlnSer] | |
| ENST00000537856.7:c.[424G>A;461A=;463C>A] | ENSP00000439827.2:p.[Asp142Asn;His154=;Arg155Ser] | |
| ENST00000540999.5:c.[742G>A;779A=;781C>A] | ENSP00000445202.1:p.[Asp248Asn;His260=;Arg261Ser] | |
| ENST00000543082.5:c.[688G>A;725A=;727C>A] | ENSP00000439656.1:p.[Asp230Asn;His242=;Arg243Ser] | |
| ENST00000544241.6:c.[601G>A;638A=;640C>A] | ENSP00000441562.2:p.[Asp201Asn;His213=;Arg214Ser] | |
| ENST00000561831.7:c.[334G>A;371A=;373C>A] | ENSP00000457765.1:p.[Asp112Asn;His124=;Arg125Ser] | |
| ENST00000561992.5:c.[424G>A;461A=;463C>A] | ENSP00000455179.1:p.[Asp142Asn;His154_Arg155delinsGlnSer] | |
| ENST00000562030.3:c.[424G>A;461A=;463C>A] | ENSP00000456220.2:p.[Asp142Asn;Arg155Ser] | |
| ENST00000562607.5:c.[424G>A;461A=;463C>A] | ENSP00000455071.2:p.[Asp142Asn;Arg155Ser] | |
| ENST00000562680.5:n.[905G>A;942A=;944C>A] | ||
| ENST00000563686.5:n.[669G>A;706A=;708C>A] | ||
| ENST00000563760.5:n.[406G>A;443A=;445C>A] | ||
| ENST00000564228.5:c.[601G>A;638A=;640C>A] | ENSP00000455261.1:p.[Asp201Asn;Arg214Ser] | |
| ENST00000564403.6:c.[832G>A;869A=;871C>A] | ENSP00000457263.1:p.[Asp278Asn;His290=;Arg291Ser] | |
| ENST00000564999.5:c.[814G>A;851A=;853C>A] | ENSP00000457649.1:p.[Asp272Asn;His284=;Arg285Ser] | |
| ENST00000565018.6:c.[562G>A;599A=;601C>A] | ENSP00000455984.2:p.[Asp188Asn;His200=;Arg201Ser] | |
| ENST00000566279.5:c.[634G>A;671A=;673C>A] | ENSP00000456125.1:p.[Asp212Asn;Arg225Ser] | |
| ENST00000566286.5:c.[808G>A;845A=;847C>A] | ENSP00000455418.2:p.[Asp270Asn;His282_Arg283delinsGlnSer] | |
| ENST00000566514.5:c.[775G>A;812A=;814C>A] | ENSP00000456983.2:p.[Asp259Asn;His271=;Arg272Ser] | |
| ENST00000567880.5:c.[634G>A;671A=;673C>A] | ENSP00000454366.1:p.[Asp212Asn;His224_Arg225delinsGlnSer] | |
| ENST00000568673.5:c.[742G>A;779A=;781C>A] | ENSP00000455135.1:p.[Asp248Asn;His260=;Arg261Ser] | |
| ENST00000568740.5:c.[739G>A;776A=;778C>A] | ENSP00000455346.1:p.[Asp247Asn;His259_Arg260delinsGlnSer] | |
| ENST00000569012.5:c.[424G>A;461A=;463C>A] | ENSP00000455304.1:p.[Asp142Asn;His154=;Arg155Ser] | |
| ENST00000570146.3:c.[78G>A;115A=;117C>A] | ||
| ENST00000570177.6:c.[424G>A;461A=;463C>A] | ENSP00000454647.1:p.[Asp142Asn;His154_Arg155delinsGlnSer] | |
| ENST00000570287.6:c.[334G>A;371A=;373C>A] | ENSP00000455763.1:p.[Asp112Asn;His124=;Arg125Ser] | |
| ENST00000616053.4:c.[562G>A;599A=;601C>A] | ENSP00000478549.1:p.[Asp188Asn;Arg201Ser] | |
| ENST00000625849.2:n.[674G>A;711A=;713C>A] | ||
| ENST00000626584.2:c.[166G>A;203A=;205C>A] | ENSP00000486072.1:p.[Asp56Asn;His68_Arg69delinsGlnSer] | |
| ENST00000627136.2:n.[524-8406G>A;524-8369A=;524-8367C>A] | ||
| ENST00000628078.2:c.[424G>A;461A=;463C>A] | ENSP00000486909.1:p.[Asp142Asn;His154=;Arg155Ser] | |
| ENST00000628636.2:c.[424G>A;461A=;463C>A] | ENSP00000485755.1:p.[Asp142Asn;His154=;Arg155Ser] | |
| ENST00000628689.2:c.[200G>A;237A=;239C>A] | ENSP00000487010.1:p.[Arg67Lys;Pro79=;Ser80Ter] | |
| ENST00000629343.2:c.[424G>A;461A=;463C>A] | ENSP00000486148.1:p.[Asp142Asn;His154=;Arg155Ser] | |
| ENST00000629387.2:c.[814G>A;851A=;853C>A] | ENSP00000486670.1:p.[Asp272Asn;His284_Arg285delinsGlnSer] | |
| ENST00000630268.2:c.[424G>A;461A=;463C>A] | ENSP00000486405.1:p.[Asp142Asn;His154=;Arg155Ser] | |
| ENST00000630720.2:c.[334G>A;371A=;373C>A] | ENSP00000487218.1:p.[Asp112Asn;His124=;Arg125Ser] | |
| ENST00000630828.2:c.[604G>A;641A=;643C>A] | ENSP00000486974.1:p.[Asp202Asn;His214=;Arg215Ser] | |
| NM_001083962.1:c.[814G>A;851A=;853C>A] | NP_001077431.1:p.[Asp272Asn;Arg285Ser] | |
| NM_001243226.2:c.[1120G>A;1157A=;1159C>A] | NP_001230155.2:p.[Asp374Asn;Arg387Ser] | |
| NM_001243227.1:c.[742G>A;779A=;781C>A] | NP_001230156.1:p.[Asp248Asn;His260=;Arg261Ser] | |
| NM_001243228.1:c.[832G>A;869A=;871C>A] | NP_001230157.1:p.[Asp278Asn;His290=;Arg291Ser] | |
| NM_001243230.1:c.[808G>A;845A=;847C>A] | NP_001230159.1:p.[Asp270Asn;His282=;Arg283Ser] | |
| NM_001243231.1:c.[688G>A;725A=;727C>A] | NP_001230160.1:p.[Asp230Asn;His242=;Arg243Ser] | |
| NM_001243232.1:c.[601G>A;638A=;640C>A] | NP_001230161.1:p.[Asp201Asn;His213=;Arg214Ser] | |
| NM_001243233.1:c.[424G>A;461A=;463C>A] | NP_001230162.1:p.[Asp142Asn;His154_Arg155delinsGlnSer] | |
| NM_001243234.1:c.[334G>A;371A=;373C>A] | NP_001230163.1:p.[Asp112Asn;His124=;Arg125Ser] | |
| NM_001243235.1:c.[334G>A;371A=;373C>A] | NP_001230164.1:p.[Asp112Asn;His124=;Arg125Ser] | |
| NM_001243236.1:c.[334G>A;371A=;373C>A] | NP_001230165.1:p.[Asp112Asn;His124=;Arg125Ser] | |
| NM_001306207.1:c.[742G>A;779A=;781C>A] | NP_001293136.1:p.[Asp248Asn;Arg261Ser] | |
| NM_001306208.1:c.[601G>A;638A=;640C>A] | NP_001293137.1:p.[Asp201Asn;His213=;Arg214Ser] | |
| NM_003199.2:c.[814G>A;851A=;853C>A] | NP_003190.1:p.[Asp272Asn;Arg285Ser] | |
| XM_005266739.3:c.[742G>A;779A=;781C>A] | XP_005266796.2:p.[Asp248Asn;Arg261Ser] | |
| XM_005266741.3:c.[811G>A;848A=;850C>A] | XP_005266798.1:p.[Asp271Asn;His283=;Arg284Ser] | |
| XM_005266743.3:c.[742G>A;779A=;781C>A] | XP_005266800.1:p.[Asp248Asn;His260=;Arg261Ser] | |
| XM_005266744.3:c.[742G>A;779A=;781C>A] | XP_005266801.1:p.[Asp248Asn;His260=;Arg261Ser] | |
| XM_005266745.3:c.[739G>A;776A=;778C>A] | XP_005266802.1:p.[Asp247Asn;His259=;Arg260Ser] | |
| XM_005266747.3:c.[688G>A;725A=;727C>A] | XP_005266804.1:p.[Asp230Asn;His242=;Arg243Ser] | |
| XM_005266749.3:c.[604G>A;641A=;643C>A] | XP_005266806.1:p.[Asp202Asn;His214=;Arg215Ser] | |
| XM_005266752.3:c.[424G>A;461A=;463C>A] | XP_005266809.1:p.[Asp142Asn;His154=;Arg155Ser] | |
| XM_005266754.3:c.[424G>A;461A=;463C>A] | XP_005266811.1:p.[Asp142Asn;His154=;Arg155Ser] | |
| XM_005266755.3:c.[424G>A;461A=;463C>A] | XP_005266812.1:p.[Asp142Asn;His154=;Arg155Ser] | |
| XM_005266761.3:c.[334G>A;371A=;373C>A] | XP_005266818.1:p.[Asp112Asn;Arg125Ser] | |
| XM_006722536.2:c.[814G>A;851A=;853C>A] | XP_006722599.1:p.[Asp272Asn;His284=;Arg285Ser] | |
| XM_006722537.2:c.[814G>A;851A=;853C>A] | XP_006722600.1:p.[Asp272Asn;Arg285Ser] | |
| XM_006722538.2:c.[739G>A;776A=;778C>A] | XP_006722601.1:p.[Asp247Asn;His259=;Arg260Ser] | |
| XM_006722539.2:c.[424G>A;461A=;463C>A] | XP_006722602.1:p.[Asp142Asn;Arg155Ser] | |
| XM_006722540.2:c.[424G>A;461A=;463C>A] | XP_006722603.1:p.[Asp142Asn;Arg155Ser] | |
| XM_011526154.1:c.[1117G>A;1154A=;1156C>A] | XP_011524456.1:p.[Asp373Asn;His385_Arg386delinsGlnSer] | |
| XM_011526155.1:c.[1120G>A;1157A=;1159C>A] | XP_011524457.1:p.[Asp374Asn;Arg387Ser] | |
| XM_011526156.1:c.[1120G>A;1157A=;1159C>A] | XP_011524458.1:p.[Asp374Asn;Arg387Ser] | |
| XM_011526157.1:c.[1117G>A;1154A=;1156C>A] | XP_011524459.1:p.[Asp373Asn;His385_Arg386delinsGlnSer] | |
| XM_011526158.1:c.[808G>A;845A=;847C>A] | XP_011524460.1:p.[Asp270Asn;His282=;Arg283Ser] | |
| XM_011526159.1:c.[424G>A;461A=;463C>A] | XP_011524461.1:p.[Asp142Asn;His154=;Arg155Ser] | |
| XM_011526160.1:c.[424G>A;461A=;463C>A] | XP_011524462.1:p.[Asp142Asn;His154=;Arg155Ser] | |
| XM_011526161.1:c.[424G>A;461A=;463C>A] | XP_011524463.1:p.[Asp142Asn;His154=;Arg155Ser] | |
| XM_011526162.1:c.[424G>A;461A=;463C>A] | XP_011524464.1:p.[Asp142Asn;His154_Arg155delinsGlnSer] | |
| XM_011526163.1:c.[424G>A;461A=;463C>A] | XP_011524465.1:p.[Asp142Asn;His154_Arg155delinsGlnSer] | |
| XM_011526164.1:c.[424G>A;461A=;463C>A] | XP_011524466.1:p.[Asp142Asn;His154=;Arg155Ser] | |
| NM_001330604.2:c.[814G>A;851A=;853C>A] | NP_001317533.1:p.[Asp272Asn;Arg285Ser] | |
| NM_001330605.2:c.[424G>A;461A=;463C>A] | NP_001317534.1:p.[Asp142Asn;His154=;Arg155Ser] | |
| NM_001348211.1:c.[688G>A;725A=;727C>A] | NP_001335140.1:p.[Asp230Asn;His242=;Arg243Ser] | |
| NM_001348212.1:c.[424G>A;461A=;463C>A] | NP_001335141.1:p.[Asp142Asn;His154_Arg155delinsGlnSer] | |
| NM_001348213.1:c.[424G>A;461A=;463C>A] | NP_001335142.1:p.[Asp142Asn;His154_Arg155delinsGlnSer] | |
| NM_001348214.1:c.[334G>A;371A=;373C>A] | NP_001335143.1:p.[Asp112Asn;His124=;Arg125Ser] | |
| NM_001348215.1:c.[166G>A;203A=;205C>A] | NP_001335144.1:p.[Asp56Asn;Arg69Ser] | |
| NM_001348216.1:c.[334G>A;371A=;373C>A] | NP_001335145.1:p.[Asp112Asn;His124=;Arg125Ser] | |
| NM_001348217.1:c.[742G>A;779A=;781C>A] | NP_001335146.1:p.[Asp248Asn;Arg261Ser] | |
| NM_001348218.1:c.[742G>A;779A=;781C>A] | NP_001335147.1:p.[Asp248Asn;Arg261Ser] | |
| NM_001348219.1:c.[742G>A;779A=;781C>A] | NP_001335148.1:p.[Asp248Asn;Arg261Ser] | |
| NM_001348220.1:c.[739G>A;776A=;778C>A] | NP_001335149.1:p.[Asp247Asn;His259_Arg260delinsGlnSer] | |
| XM_005266739.4:c.[742G>A;779A=;781C>A] | XP_005266796.2:p.[Asp248Asn;Arg261Ser] | |
| XM_005266741.4:c.[811G>A;848A=;850C>A] | XP_005266798.1:p.[Asp271Asn;His283=;Arg284Ser] | |
| XM_005266745.4:c.[739G>A;776A=;778C>A] | XP_005266802.1:p.[Asp247Asn;His259=;Arg260Ser] | |
| XM_005266749.4:c.[604G>A;641A=;643C>A] | XP_005266806.1:p.[Asp202Asn;His214=;Arg215Ser] | |
| XM_005266752.5:c.[424G>A;461A=;463C>A] | XP_005266809.1:p.[Asp142Asn;His154_Arg155delinsGlnSer] | |
| XM_005266755.5:c.[424G>A;461A=;463C>A] | XP_005266812.1:p.[Asp142Asn;His154_Arg155delinsGlnSer] | |
| XM_005266761.4:c.[334G>A;371A=;373C>A] | XP_005266818.1:p.[Asp112Asn;Arg125Ser] | |
| XM_006722536.3:c.[814G>A;851A=;853C>A] | XP_006722599.1:p.[Asp272Asn;His284=;Arg285Ser] | |
| XM_006722537.3:c.[814G>A;851A=;853C>A] | XP_006722600.1:p.[Asp272Asn;Arg285Ser] | |
| XM_006722538.3:c.[739G>A;776A=;778C>A] | XP_006722601.1:p.[Asp247Asn;His259=;Arg260Ser] | |
| XM_017025934.2:c.[739G>A;776A=;778C>A] | XP_016881423.1:p.[Asp247Asn;Arg260Ser] | |
| XM_017025935.2:c.[742G>A;779A=;781C>A] | XP_016881424.1:p.[Asp248Asn;Arg261Ser] | |
| XM_017025936.2:c.[742G>A;779A=;781C>A] | XP_016881425.1:p.[Asp248Asn;Arg261Ser] | |
| XM_017025937.2:c.[739G>A;776A=;778C>A] | XP_016881426.1:p.[Asp247Asn;Arg260Ser] | |
| XM_017025938.2:c.[811G>A;848A=;850C>A] | XP_016881427.1:p.[Asp271Asn;His283_Arg284delinsGlnSer] | |
| XM_017025940.2:c.[814G>A;851A=;853C>A] | XP_016881429.1:p.[Asp272Asn;His284=;Arg285Ser] | |
| XM_017025941.2:c.[814G>A;851A=;853C>A] | XP_016881430.1:p.[Asp272Asn;Arg285Ser] | |
| XM_017025942.2:c.[811G>A;848A=;850C>A] | XP_016881431.1:p.[Asp271Asn;His283=;Arg284Ser] | |
| XM_017025943.2:c.[814G>A;851A=;853C>A] | XP_016881432.1:p.[Asp272Asn;His284=;Arg285Ser] | |
| XM_017025944.2:c.[739G>A;776A=;778C>A] | XP_016881433.1:p.[Asp247Asn;His259_Arg260delinsGlnSer] | |
| XM_017025945.2:c.[742G>A;779A=;781C>A] | XP_016881434.1:p.[Asp248Asn;His260_Arg261delinsGlnSer] | |
| XM_017025946.2:c.[742G>A;779A=;781C>A] | XP_016881435.1:p.[Asp248Asn;His260=;Arg261Ser] | |
| XM_017025948.2:c.[739G>A;776A=;778C>A] | XP_016881437.1:p.[Asp247Asn;His259_Arg260delinsGlnSer] | |
| XM_017025950.2:c.[739G>A;776A=;778C>A] | XP_016881439.1:p.[Asp247Asn;His259_Arg260delinsGlnSer] | |
| XM_017025951.2:c.[688G>A;725A=;727C>A] | XP_016881440.1:p.[Asp230Asn;His242=;Arg243Ser] | |
| XM_017025952.2:c.[601G>A;638A=;640C>A] | XP_016881441.1:p.[Asp201Asn;Arg214Ser] | |
| XM_017025953.2:c.[604G>A;641A=;643C>A] | XP_016881442.1:p.[Asp202Asn;His214=;Arg215Ser] | |
| XM_017025954.2:c.[424G>A;461A=;463C>A] | XP_016881443.1:p.[Asp142Asn;His154=;Arg155Ser] | |
| XM_017025956.2:c.[424G>A;461A=;463C>A] | XP_016881445.1:p.[Asp142Asn;His154=;Arg155Ser] | |
| XM_024451240.1:c.[742G>A;779A=;781C>A] | XP_024307008.1:p.[Asp248Asn;His260=;Arg261Ser] | |
| XM_024451241.1:c.[577G>A;614A=;616C>A] | XP_024307009.1:p.[Asp193Asn;His205=;Arg206Ser] | |
| NM_001083962.2:c.[814G>A;851A=;853C>A] MANE Select | NP_001077431.1:p.[Asp272Asn;His284=;Arg285Ser] | |
| NM_001243226.3:c.[1120G>A;1157A=;1159C>A] | NP_001230155.2:p.[Asp374Asn;Arg387Ser] | |
| NM_001243227.2:c.[742G>A;779A=;781C>A] | NP_001230156.1:p.[Asp248Asn;His260=;Arg261Ser] | |
| NM_001243228.2:c.[832G>A;869A=;871C>A] | NP_001230157.1:p.[Asp278Asn;His290=;Arg291Ser] | |
| NM_001243231.2:c.[688G>A;725A=;727C>A] | NP_001230160.1:p.[Asp230Asn;His242=;Arg243Ser] | |
| NM_001243233.2:c.[424G>A;461A=;463C>A] | NP_001230162.1:p.[Asp142Asn;His154_Arg155delinsGlnSer] | |
| NM_001243234.2:c.[334G>A;371A=;373C>A] | NP_001230163.1:p.[Asp112Asn;His124=;Arg125Ser] | |
| NM_001243235.2:c.[334G>A;371A=;373C>A] | NP_001230164.1:p.[Asp112Asn;His124=;Arg125Ser] | |
| NM_001243236.2:c.[334G>A;371A=;373C>A] | NP_001230165.1:p.[Asp112Asn;His124=;Arg125Ser] | |
| NM_001330604.3:c.[814G>A;851A=;853C>A] | NP_001317533.1:p.[Asp272Asn;His284=;Arg285Ser] | |
| NM_001330605.3:c.[424G>A;461A=;463C>A] | NP_001317534.1:p.[Asp142Asn;His154=;Arg155Ser] | |
| NM_001348211.2:c.[688G>A;725A=;727C>A] | NP_001335140.1:p.[Asp230Asn;His242=;Arg243Ser] | |
| NM_001348212.2:c.[424G>A;461A=;463C>A] | NP_001335141.1:p.[Asp142Asn;His154_Arg155delinsGlnSer] | |
| NM_001348213.2:c.[424G>A;461A=;463C>A] | NP_001335142.1:p.[Asp142Asn;His154_Arg155delinsGlnSer] | |
| NM_001348214.2:c.[334G>A;371A=;373C>A] | NP_001335143.1:p.[Asp112Asn;His124=;Arg125Ser] | |
| NM_001348215.2:c.[166G>A;203A=;205C>A] | NP_001335144.1:p.[Asp56Asn;Arg69Ser] | |
| NM_001348216.2:c.[334G>A;371A=;373C>A] | NP_001335145.1:p.[Asp112Asn;His124=;Arg125Ser] | |
| NM_001348218.2:c.[742G>A;779A=;781C>A] | NP_001335147.1:p.[Asp248Asn;Arg261Ser] | |
| NM_001348219.2:c.[742G>A;779A=;781C>A] | NP_001335148.1:p.[Asp248Asn;Arg261Ser] | |
| NM_001369567.1:c.[814G>A;851A=;853C>A] | NP_001356496.1:p.[Asp272Asn;His284=;Arg285Ser] | |
| NM_001369568.1:c.[814G>A;851A=;853C>A] | NP_001356497.1:p.[Asp272Asn;Arg285Ser] | |
| NM_001369569.1:c.[811G>A;848A=;850C>A] | NP_001356498.1:p.[Asp271Asn;His283_Arg284delinsGlnSer] | |
| NM_001369570.1:c.[811G>A;848A=;850C>A] | NP_001356499.1:p.[Asp271Asn;His283=;Arg284Ser] | |
| NM_001369571.1:c.[814G>A;851A=;853C>A] | NP_001356500.1:p.[Asp272Asn;His284=;Arg285Ser] | |
| NM_001369572.1:c.[814G>A;851A=;853C>A] | NP_001356501.1:p.[Asp272Asn;Arg285Ser] | |
| NM_001369573.1:c.[811G>A;848A=;850C>A] | NP_001356502.1:p.[Asp271Asn;His283=;Arg284Ser] | |
| NM_001369574.1:c.[814G>A;851A=;853C>A] | NP_001356503.1:p.[Asp272Asn;His284=;Arg285Ser] | |
| NM_001369575.1:c.[742G>A;779A=;781C>A] | NP_001356504.1:p.[Asp248Asn;His260=;Arg261Ser] | |
| NM_001369576.1:c.[739G>A;776A=;778C>A] | NP_001356505.1:p.[Asp247Asn;His259=;Arg260Ser] | |
| NM_001369577.1:c.[742G>A;779A=;781C>A] | NP_001356506.1:p.[Asp248Asn;His260=;Arg261Ser] | |
| NM_001369578.1:c.[739G>A;776A=;778C>A] | NP_001356507.1:p.[Asp247Asn;His259=;Arg260Ser] | |
| NM_001369579.1:c.[742G>A;779A=;781C>A] | NP_001356508.1:p.[Asp248Asn;His260=;Arg261Ser] | |
| NM_001369580.1:c.[742G>A;779A=;781C>A] | NP_001356509.1:p.[Asp248Asn;Arg261Ser] | |
| NM_001369581.1:c.[739G>A;776A=;778C>A] | NP_001356510.1:p.[Asp247Asn;His259_Arg260delinsGlnSer] | |
| NM_001369582.1:c.[742G>A;779A=;781C>A] | NP_001356511.1:p.[Asp248Asn;His260=;Arg261Ser] | |
| NM_001369583.1:c.[742G>A;779A=;781C>A] | NP_001356512.1:p.[Asp248Asn;His260=;Arg261Ser] | |
| NM_001369584.1:c.[739G>A;776A=;778C>A] | NP_001356513.1:p.[Asp247Asn;His259=;Arg260Ser] | |
| NM_001369585.1:c.[739G>A;776A=;778C>A] | NP_001356514.1:p.[Asp247Asn;His259=;Arg260Ser] | |
| NM_001369586.1:c.[742G>A;779A=;781C>A] | NP_001356515.1:p.[Asp248Asn;His260=;Arg261Ser] | |
| NM_003199.3:c.[814G>A;851A=;853C>A] | NP_003190.1:p.[Asp272Asn;His284=;Arg285Ser] | |
| NM_001243230.2:c.[808G>A;845A=;847C>A] | NP_001230159.1:p.[Asp270Asn;His282=;Arg283Ser] |