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.[55269910G>C;55269917G>A;55269924G>T] , CM000680.2:g.[55269910G>C;55269917G>A;55269924G>T] | GRCh38 |
| NC_000018.9:g.[52937141G>C;52937148G>A;52937155G>T] , CM000680.1:g.[52937141G>C;52937148G>A;52937155G>T] | GRCh37 |
| NC_000018.8:g.[51088139G>C;51088146G>A;51088153G>T] | NCBI36 |
| NG_011716.1:g.[323706C>A;323713C>T;323720C>G] | |
| NG_011716.2:g.[371070C>A;371077C>T;371084C>G] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354452.8:c.[829C>A;836C>T;843C>G] MANE Select | ENSP00000346440.3:p.[Leu277Ile;Pro279Leu;Ser281=] | |
| ENST00000630720.3:c.[349C>A;356C>T;363C>G] | ENSP00000487218.1:p.[Leu117Ile;Pro119Leu;Ser121=] | |
| ENST00000635822.2:c.[829C>A;836C>T;843C>G] | ENSP00000490451.1:p.[Leu277Ile;Pro279Leu;Ser281=] | |
| ENST00000635990.2:n.[509C>A;516C>T;523C>G] | ||
| ENST00000636400.2:c.[757C>A;764C>T;771C>G] | ENSP00000490006.1:p.[Leu253Ile;Pro255Leu;Ser257=] | |
| ENST00000636751.2:c.[*537C>A;*544C>T;*551C>G] | ENSP00000489783.1:n.[*537C>A;*544C>T;*551C>G] | |
| ENST00000636822.2:c.[439C>A;446C>T;453C>G] | ENSP00000490883.1:p.[Leu147Ile;Pro149Leu;Ser151=] | |
| ENST00000637115.2:c.[*719C>A;*726C>T;*733C>G] | ENSP00000490234.1:n.[*719C>A;*726C>T;*733C>G] | |
| ENST00000637169.2:c.[181C>A;188C>T;195C>G] | ENSP00000490832.1:p.[Leu61Ile;Pro63Leu;Ser65=] | |
| ENST00000637239.2:n.[896C>A;903C>T;910C>G] | ||
| ENST00000637250.2:n.[523C>A;530C>T;537C>G] | ||
| ENST00000637923.2:c.[427C>A;434C>T;441C>G] | ||
| ENST00000638154.3:c.[859C>A;866C>T;873C>G] | ENSP00000490625.2:p.[Leu287Ile;Pro289Leu;Ser291=] | |
| ENST00000643689.1:c.[439C>A;446C>T;453C>G] | ENSP00000494380.1:p.[Leu147Ile;Pro149Leu;Ser151=] | |
| ENST00000674764.1:c.[*440C>A;*447C>T;*454C>G] | ENSP00000502213.1:n.[*440C>A;*447C>T;*454C>G] | |
| ENST00000675707.1:c.[439C>A;446C>T;453C>G] | ENSP00000501758.1:p.[Leu147Ile;Pro149Leu;Ser151=] | |
| ENST00000354452.7:c.[829C>A;836C>T;843C>G] | ENSP00000346440.3:p.[Leu277Ile;Pro279Leu;Ser281=] | |
| ENST00000356073.8:c.[829C>A;836C>T;843C>G] | ENSP00000348374.4:p.[Leu277Ile;Pro279Leu;Ser281=] | |
| ENST00000398339.5:c.[1135C>A;1142C>T;1149C>G] | ENSP00000381382.1:p.[Leu379Ile;Pro381Leu;Ser383=] | |
| ENST00000457482.7:c.[349C>A;356C>T;363C>G] | ENSP00000409447.2:p.[Leu117Ile;Pro119Leu;Ser121=] | |
| ENST00000537578.5:c.[757C>A;764C>T;771C>G] | ENSP00000440731.1:p.[Leu253Ile;Pro255Leu;Ser257=] | |
| ENST00000537856.7:c.[439C>A;446C>T;453C>G] | ENSP00000439827.2:p.[Leu147Ile;Pro149Leu;Ser151=] | |
| ENST00000540999.5:c.[757C>A;764C>T;771C>G] | ENSP00000445202.1:p.[Leu253Ile;Pro255Leu;Ser257=] | |
| ENST00000543082.5:c.[703C>A;710C>T;717C>G] | ENSP00000439656.1:p.[Leu235Ile;Pro237Leu;Ser239=] | |
| ENST00000544241.6:c.[616C>A;623C>T;630C>G] | ENSP00000441562.2:p.[Leu206Ile;Pro208Leu;Ser210=] | |
| ENST00000561831.7:c.[349C>A;356C>T;363C>G] | ENSP00000457765.1:p.[Leu117Ile;Pro119Leu;Ser121=] | |
| ENST00000561992.5:c.[439C>A;446C>T;453C>G] | ENSP00000455179.1:p.[Leu147Ile;Pro149Leu;Ser151=] | |
| ENST00000562030.3:c.[439C>A;446C>T;453C>G] | ENSP00000456220.2:p.[Leu147Ile;Pro149Leu;Ser151=] | |
| ENST00000562607.5:c.[439C>A;446C>T;453C>G] | ENSP00000455071.2:p.[Leu147Ile;Pro149Leu;Ser151=] | |
| ENST00000562680.5:n.[920C>A;927C>T;934C>G] | ||
| ENST00000563686.5:n.[684C>A;691C>T;698C>G] | ||
| ENST00000563760.5:n.[421C>A;428C>T;435C>G] | ||
| ENST00000564228.5:c.[616C>A;623C>T;630C>G] | ENSP00000455261.1:p.[Leu206Ile;Pro208Leu;Ser210=] | |
| ENST00000564403.6:c.[847C>A;854C>T;861C>G] | ENSP00000457263.1:p.[Leu283Ile;Pro285Leu;Ser287=] | |
| ENST00000564999.5:c.[829C>A;836C>T;843C>G] | ENSP00000457649.1:p.[Leu277Ile;Pro279Leu;Ser281=] | |
| ENST00000565018.6:c.[577C>A;584C>T;591C>G] | ENSP00000455984.2:p.[Leu193Ile;Pro195Leu;Ser197=] | |
| ENST00000566279.5:c.[649C>A;656C>T;663C>G] | ENSP00000456125.1:p.[Leu217Ile;Pro219Leu;Ser221=] | |
| ENST00000566286.5:c.[823C>A;830C>T;837C>G] | ENSP00000455418.2:p.[Leu275Ile;Pro277Leu;Ser279=] | |
| ENST00000566514.5:c.[790C>A;797C>T;804C>G] | ENSP00000456983.2:p.[Leu264Ile;Pro266Leu;Ser268=] | |
| ENST00000567880.5:c.[649C>A;656C>T;663C>G] | ENSP00000454366.1:p.[Leu217Ile;Pro219Leu;Ser221=] | |
| ENST00000568673.5:c.[757C>A;764C>T;771C>G] | ENSP00000455135.1:p.[Leu253Ile;Pro255Leu;Ser257=] | |
| ENST00000568740.5:c.[754C>A;761C>T;768C>G] | ENSP00000455346.1:p.[Leu252Ile;Pro254Leu;Ser256=] | |
| ENST00000569012.5:c.[439C>A;446C>T;453C>G] | ENSP00000455304.1:p.[Leu147Ile;Pro149Leu;Ser151=] | |
| ENST00000570146.3:c.[93C>A;100C>T;107C>G] | ||
| ENST00000570177.6:c.[439C>A;446C>T;453C>G] | ENSP00000454647.1:p.[Leu147Ile;Pro149Leu;Ser151=] | |
| ENST00000570287.6:c.[349C>A;356C>T;363C>G] | ENSP00000455763.1:p.[Leu117Ile;Pro119Leu;Ser121=] | |
| ENST00000616053.4:c.[577C>A;584C>T;591C>G] | ENSP00000478549.1:p.[Leu193Ile;Pro195Leu;Ser197=] | |
| ENST00000625849.2:n.[689C>A;696C>T;703C>G] | ||
| ENST00000626584.2:c.[181C>A;188C>T;195C>G] | ENSP00000486072.1:p.[Leu61Ile;Pro63Leu;Ser65=] | |
| ENST00000627136.2:n.[524-8391C>A;524-8384C>T;524-8377C>G] | ||
| ENST00000628078.2:c.[439C>A;446C>T;453C>G] | ENSP00000486909.1:p.[Leu147Ile;Pro149Leu;Ser151=] | |
| ENST00000628636.2:c.[439C>A;446C>T;453C>G] | ENSP00000485755.1:p.[Leu147Ile;Pro149Leu;Ser151=] | |
| ENST00000628689.2:c.[215C>A;222C>T;229C>G] | ENSP00000487010.1:p.[Ser72Tyr;Ser74=;His77Asp] | |
| ENST00000629343.2:c.[439C>A;446C>T;453C>G] | ENSP00000486148.1:p.[Leu147Ile;Pro149Leu;Ser151=] | |
| ENST00000629387.2:c.[829C>A;836C>T;843C>G] | ENSP00000486670.1:p.[Leu277Ile;Pro279Leu;Ser281=] | |
| ENST00000630268.2:c.[439C>A;446C>T;453C>G] | ENSP00000486405.1:p.[Leu147Ile;Pro149Leu;Ser151=] | |
| ENST00000630720.2:c.[349C>A;356C>T;363C>G] | ENSP00000487218.1:p.[Leu117Ile;Pro119Leu;Ser121=] | |
| ENST00000630828.2:c.[619C>A;626C>T;633C>G] | ENSP00000486974.1:p.[Leu207Ile;Pro209Leu;Ser211=] | |
| NM_001083962.1:c.[829C>A;836C>T;843C>G] | NP_001077431.1:p.[Leu277Ile;Pro279Leu;Ser281=] | |
| NM_001243226.2:c.[1135C>A;1142C>T;1149C>G] | NP_001230155.2:p.[Leu379Ile;Pro381Leu;Ser383=] | |
| NM_001243227.1:c.[757C>A;764C>T;771C>G] | NP_001230156.1:p.[Leu253Ile;Pro255Leu;Ser257=] | |
| NM_001243228.1:c.[847C>A;854C>T;861C>G] | NP_001230157.1:p.[Leu283Ile;Pro285Leu;Ser287=] | |
| NM_001243230.1:c.[823C>A;830C>T;837C>G] | NP_001230159.1:p.[Leu275Ile;Pro277Leu;Ser279=] | |
| NM_001243231.1:c.[703C>A;710C>T;717C>G] | NP_001230160.1:p.[Leu235Ile;Pro237Leu;Ser239=] | |
| NM_001243232.1:c.[616C>A;623C>T;630C>G] | NP_001230161.1:p.[Leu206Ile;Pro208Leu;Ser210=] | |
| NM_001243233.1:c.[439C>A;446C>T;453C>G] | NP_001230162.1:p.[Leu147Ile;Pro149Leu;Ser151=] | |
| NM_001243234.1:c.[349C>A;356C>T;363C>G] | NP_001230163.1:p.[Leu117Ile;Pro119Leu;Ser121=] | |
| NM_001243235.1:c.[349C>A;356C>T;363C>G] | NP_001230164.1:p.[Leu117Ile;Pro119Leu;Ser121=] | |
| NM_001243236.1:c.[349C>A;356C>T;363C>G] | NP_001230165.1:p.[Leu117Ile;Pro119Leu;Ser121=] | |
| NM_001306207.1:c.[757C>A;764C>T;771C>G] | NP_001293136.1:p.[Leu253Ile;Pro255Leu;Ser257=] | |
| NM_001306208.1:c.[616C>A;623C>T;630C>G] | NP_001293137.1:p.[Leu206Ile;Pro208Leu;Ser210=] | |
| NM_003199.2:c.[829C>A;836C>T;843C>G] | NP_003190.1:p.[Leu277Ile;Pro279Leu;Ser281=] | |
| XM_005266739.3:c.[757C>A;764C>T;771C>G] | XP_005266796.2:p.[Leu253Ile;Pro255Leu;Ser257=] | |
| XM_005266741.3:c.[826C>A;833C>T;840C>G] | XP_005266798.1:p.[Leu276Ile;Pro278Leu;Ser280=] | |
| XM_005266743.3:c.[757C>A;764C>T;771C>G] | XP_005266800.1:p.[Leu253Ile;Pro255Leu;Ser257=] | |
| XM_005266744.3:c.[757C>A;764C>T;771C>G] | XP_005266801.1:p.[Leu253Ile;Pro255Leu;Ser257=] | |
| XM_005266745.3:c.[754C>A;761C>T;768C>G] | XP_005266802.1:p.[Leu252Ile;Pro254Leu;Ser256=] | |
| XM_005266747.3:c.[703C>A;710C>T;717C>G] | XP_005266804.1:p.[Leu235Ile;Pro237Leu;Ser239=] | |
| XM_005266749.3:c.[619C>A;626C>T;633C>G] | XP_005266806.1:p.[Leu207Ile;Pro209Leu;Ser211=] | |
| XM_005266752.3:c.[439C>A;446C>T;453C>G] | XP_005266809.1:p.[Leu147Ile;Pro149Leu;Ser151=] | |
| XM_005266754.3:c.[439C>A;446C>T;453C>G] | XP_005266811.1:p.[Leu147Ile;Pro149Leu;Ser151=] | |
| XM_005266755.3:c.[439C>A;446C>T;453C>G] | XP_005266812.1:p.[Leu147Ile;Pro149Leu;Ser151=] | |
| XM_005266761.3:c.[349C>A;356C>T;363C>G] | XP_005266818.1:p.[Leu117Ile;Pro119Leu;Ser121=] | |
| XM_006722536.2:c.[829C>A;836C>T;843C>G] | XP_006722599.1:p.[Leu277Ile;Pro279Leu;Ser281=] | |
| XM_006722537.2:c.[829C>A;836C>T;843C>G] | XP_006722600.1:p.[Leu277Ile;Pro279Leu;Ser281=] | |
| XM_006722538.2:c.[754C>A;761C>T;768C>G] | XP_006722601.1:p.[Leu252Ile;Pro254Leu;Ser256=] | |
| XM_006722539.2:c.[439C>A;446C>T;453C>G] | XP_006722602.1:p.[Leu147Ile;Pro149Leu;Ser151=] | |
| XM_006722540.2:c.[439C>A;446C>T;453C>G] | XP_006722603.1:p.[Leu147Ile;Pro149Leu;Ser151=] | |
| XM_011526154.1:c.[1132C>A;1139C>T;1146C>G] | XP_011524456.1:p.[Leu378Ile;Pro380Leu;Ser382=] | |
| XM_011526155.1:c.[1135C>A;1142C>T;1149C>G] | XP_011524457.1:p.[Leu379Ile;Pro381Leu;Ser383=] | |
| XM_011526156.1:c.[1135C>A;1142C>T;1149C>G] | XP_011524458.1:p.[Leu379Ile;Pro381Leu;Ser383=] | |
| XM_011526157.1:c.[1132C>A;1139C>T;1146C>G] | XP_011524459.1:p.[Leu378Ile;Pro380Leu;Ser382=] | |
| XM_011526158.1:c.[823C>A;830C>T;837C>G] | XP_011524460.1:p.[Leu275Ile;Pro277Leu;Ser279=] | |
| XM_011526159.1:c.[439C>A;446C>T;453C>G] | XP_011524461.1:p.[Leu147Ile;Pro149Leu;Ser151=] | |
| XM_011526160.1:c.[439C>A;446C>T;453C>G] | XP_011524462.1:p.[Leu147Ile;Pro149Leu;Ser151=] | |
| XM_011526161.1:c.[439C>A;446C>T;453C>G] | XP_011524463.1:p.[Leu147Ile;Pro149Leu;Ser151=] | |
| XM_011526162.1:c.[439C>A;446C>T;453C>G] | XP_011524464.1:p.[Leu147Ile;Pro149Leu;Ser151=] | |
| XM_011526163.1:c.[439C>A;446C>T;453C>G] | XP_011524465.1:p.[Leu147Ile;Pro149Leu;Ser151=] | |
| XM_011526164.1:c.[439C>A;446C>T;453C>G] | XP_011524466.1:p.[Leu147Ile;Pro149Leu;Ser151=] | |
| NM_001330604.2:c.[829C>A;836C>T;843C>G] | NP_001317533.1:p.[Leu277Ile;Pro279Leu;Ser281=] | |
| NM_001330605.2:c.[439C>A;446C>T;453C>G] | NP_001317534.1:p.[Leu147Ile;Pro149Leu;Ser151=] | |
| NM_001348211.1:c.[703C>A;710C>T;717C>G] | NP_001335140.1:p.[Leu235Ile;Pro237Leu;Ser239=] | |
| NM_001348212.1:c.[439C>A;446C>T;453C>G] | NP_001335141.1:p.[Leu147Ile;Pro149Leu;Ser151=] | |
| NM_001348213.1:c.[439C>A;446C>T;453C>G] | NP_001335142.1:p.[Leu147Ile;Pro149Leu;Ser151=] | |
| NM_001348214.1:c.[349C>A;356C>T;363C>G] | NP_001335143.1:p.[Leu117Ile;Pro119Leu;Ser121=] | |
| NM_001348215.1:c.[181C>A;188C>T;195C>G] | NP_001335144.1:p.[Leu61Ile;Pro63Leu;Ser65=] | |
| NM_001348216.1:c.[349C>A;356C>T;363C>G] | NP_001335145.1:p.[Leu117Ile;Pro119Leu;Ser121=] | |
| NM_001348217.1:c.[757C>A;764C>T;771C>G] | NP_001335146.1:p.[Leu253Ile;Pro255Leu;Ser257=] | |
| NM_001348218.1:c.[757C>A;764C>T;771C>G] | NP_001335147.1:p.[Leu253Ile;Pro255Leu;Ser257=] | |
| NM_001348219.1:c.[757C>A;764C>T;771C>G] | NP_001335148.1:p.[Leu253Ile;Pro255Leu;Ser257=] | |
| NM_001348220.1:c.[754C>A;761C>T;768C>G] | NP_001335149.1:p.[Leu252Ile;Pro254Leu;Ser256=] | |
| XM_005266739.4:c.[757C>A;764C>T;771C>G] | XP_005266796.2:p.[Leu253Ile;Pro255Leu;Ser257=] | |
| XM_005266741.4:c.[826C>A;833C>T;840C>G] | XP_005266798.1:p.[Leu276Ile;Pro278Leu;Ser280=] | |
| XM_005266745.4:c.[754C>A;761C>T;768C>G] | XP_005266802.1:p.[Leu252Ile;Pro254Leu;Ser256=] | |
| XM_005266749.4:c.[619C>A;626C>T;633C>G] | XP_005266806.1:p.[Leu207Ile;Pro209Leu;Ser211=] | |
| XM_005266752.5:c.[439C>A;446C>T;453C>G] | XP_005266809.1:p.[Leu147Ile;Pro149Leu;Ser151=] | |
| XM_005266755.5:c.[439C>A;446C>T;453C>G] | XP_005266812.1:p.[Leu147Ile;Pro149Leu;Ser151=] | |
| XM_005266761.4:c.[349C>A;356C>T;363C>G] | XP_005266818.1:p.[Leu117Ile;Pro119Leu;Ser121=] | |
| XM_006722536.3:c.[829C>A;836C>T;843C>G] | XP_006722599.1:p.[Leu277Ile;Pro279Leu;Ser281=] | |
| XM_006722537.3:c.[829C>A;836C>T;843C>G] | XP_006722600.1:p.[Leu277Ile;Pro279Leu;Ser281=] | |
| XM_006722538.3:c.[754C>A;761C>T;768C>G] | XP_006722601.1:p.[Leu252Ile;Pro254Leu;Ser256=] | |
| XM_017025934.2:c.[754C>A;761C>T;768C>G] | XP_016881423.1:p.[Leu252Ile;Pro254Leu;Ser256=] | |
| XM_017025935.2:c.[757C>A;764C>T;771C>G] | XP_016881424.1:p.[Leu253Ile;Pro255Leu;Ser257=] | |
| XM_017025936.2:c.[757C>A;764C>T;771C>G] | XP_016881425.1:p.[Leu253Ile;Pro255Leu;Ser257=] | |
| XM_017025937.2:c.[754C>A;761C>T;768C>G] | XP_016881426.1:p.[Leu252Ile;Pro254Leu;Ser256=] | |
| XM_017025938.2:c.[826C>A;833C>T;840C>G] | XP_016881427.1:p.[Leu276Ile;Pro278Leu;Ser280=] | |
| XM_017025940.2:c.[829C>A;836C>T;843C>G] | XP_016881429.1:p.[Leu277Ile;Pro279Leu;Ser281=] | |
| XM_017025941.2:c.[829C>A;836C>T;843C>G] | XP_016881430.1:p.[Leu277Ile;Pro279Leu;Ser281=] | |
| XM_017025942.2:c.[826C>A;833C>T;840C>G] | XP_016881431.1:p.[Leu276Ile;Pro278Leu;Ser280=] | |
| XM_017025943.2:c.[829C>A;836C>T;843C>G] | XP_016881432.1:p.[Leu277Ile;Pro279Leu;Ser281=] | |
| XM_017025944.2:c.[754C>A;761C>T;768C>G] | XP_016881433.1:p.[Leu252Ile;Pro254Leu;Ser256=] | |
| XM_017025945.2:c.[757C>A;764C>T;771C>G] | XP_016881434.1:p.[Leu253Ile;Pro255Leu;Ser257=] | |
| XM_017025946.2:c.[757C>A;764C>T;771C>G] | XP_016881435.1:p.[Leu253Ile;Pro255Leu;Ser257=] | |
| XM_017025948.2:c.[754C>A;761C>T;768C>G] | XP_016881437.1:p.[Leu252Ile;Pro254Leu;Ser256=] | |
| XM_017025950.2:c.[754C>A;761C>T;768C>G] | XP_016881439.1:p.[Leu252Ile;Pro254Leu;Ser256=] | |
| XM_017025951.2:c.[703C>A;710C>T;717C>G] | XP_016881440.1:p.[Leu235Ile;Pro237Leu;Ser239=] | |
| XM_017025952.2:c.[616C>A;623C>T;630C>G] | XP_016881441.1:p.[Leu206Ile;Pro208Leu;Ser210=] | |
| XM_017025953.2:c.[619C>A;626C>T;633C>G] | XP_016881442.1:p.[Leu207Ile;Pro209Leu;Ser211=] | |
| XM_017025954.2:c.[439C>A;446C>T;453C>G] | XP_016881443.1:p.[Leu147Ile;Pro149Leu;Ser151=] | |
| XM_017025956.2:c.[439C>A;446C>T;453C>G] | XP_016881445.1:p.[Leu147Ile;Pro149Leu;Ser151=] | |
| XM_024451240.1:c.[757C>A;764C>T;771C>G] | XP_024307008.1:p.[Leu253Ile;Pro255Leu;Ser257=] | |
| XM_024451241.1:c.[592C>A;599C>T;606C>G] | XP_024307009.1:p.[Leu198Ile;Pro200Leu;Ser202=] | |
| NM_001083962.2:c.[829C>A;836C>T;843C>G] MANE Select | NP_001077431.1:p.[Leu277Ile;Pro279Leu;Ser281=] | |
| NM_001243226.3:c.[1135C>A;1142C>T;1149C>G] | NP_001230155.2:p.[Leu379Ile;Pro381Leu;Ser383=] | |
| NM_001243227.2:c.[757C>A;764C>T;771C>G] | NP_001230156.1:p.[Leu253Ile;Pro255Leu;Ser257=] | |
| NM_001243228.2:c.[847C>A;854C>T;861C>G] | NP_001230157.1:p.[Leu283Ile;Pro285Leu;Ser287=] | |
| NM_001243231.2:c.[703C>A;710C>T;717C>G] | NP_001230160.1:p.[Leu235Ile;Pro237Leu;Ser239=] | |
| NM_001243233.2:c.[439C>A;446C>T;453C>G] | NP_001230162.1:p.[Leu147Ile;Pro149Leu;Ser151=] | |
| NM_001243234.2:c.[349C>A;356C>T;363C>G] | NP_001230163.1:p.[Leu117Ile;Pro119Leu;Ser121=] | |
| NM_001243235.2:c.[349C>A;356C>T;363C>G] | NP_001230164.1:p.[Leu117Ile;Pro119Leu;Ser121=] | |
| NM_001243236.2:c.[349C>A;356C>T;363C>G] | NP_001230165.1:p.[Leu117Ile;Pro119Leu;Ser121=] | |
| NM_001330604.3:c.[829C>A;836C>T;843C>G] | NP_001317533.1:p.[Leu277Ile;Pro279Leu;Ser281=] | |
| NM_001330605.3:c.[439C>A;446C>T;453C>G] | NP_001317534.1:p.[Leu147Ile;Pro149Leu;Ser151=] | |
| NM_001348211.2:c.[703C>A;710C>T;717C>G] | NP_001335140.1:p.[Leu235Ile;Pro237Leu;Ser239=] | |
| NM_001348212.2:c.[439C>A;446C>T;453C>G] | NP_001335141.1:p.[Leu147Ile;Pro149Leu;Ser151=] | |
| NM_001348213.2:c.[439C>A;446C>T;453C>G] | NP_001335142.1:p.[Leu147Ile;Pro149Leu;Ser151=] | |
| NM_001348214.2:c.[349C>A;356C>T;363C>G] | NP_001335143.1:p.[Leu117Ile;Pro119Leu;Ser121=] | |
| NM_001348215.2:c.[181C>A;188C>T;195C>G] | NP_001335144.1:p.[Leu61Ile;Pro63Leu;Ser65=] | |
| NM_001348216.2:c.[349C>A;356C>T;363C>G] | NP_001335145.1:p.[Leu117Ile;Pro119Leu;Ser121=] | |
| NM_001348218.2:c.[757C>A;764C>T;771C>G] | NP_001335147.1:p.[Leu253Ile;Pro255Leu;Ser257=] | |
| NM_001348219.2:c.[757C>A;764C>T;771C>G] | NP_001335148.1:p.[Leu253Ile;Pro255Leu;Ser257=] | |
| NM_001369567.1:c.[829C>A;836C>T;843C>G] | NP_001356496.1:p.[Leu277Ile;Pro279Leu;Ser281=] | |
| NM_001369568.1:c.[829C>A;836C>T;843C>G] | NP_001356497.1:p.[Leu277Ile;Pro279Leu;Ser281=] | |
| NM_001369569.1:c.[826C>A;833C>T;840C>G] | NP_001356498.1:p.[Leu276Ile;Pro278Leu;Ser280=] | |
| NM_001369570.1:c.[826C>A;833C>T;840C>G] | NP_001356499.1:p.[Leu276Ile;Pro278Leu;Ser280=] | |
| NM_001369571.1:c.[829C>A;836C>T;843C>G] | NP_001356500.1:p.[Leu277Ile;Pro279Leu;Ser281=] | |
| NM_001369572.1:c.[829C>A;836C>T;843C>G] | NP_001356501.1:p.[Leu277Ile;Pro279Leu;Ser281=] | |
| NM_001369573.1:c.[826C>A;833C>T;840C>G] | NP_001356502.1:p.[Leu276Ile;Pro278Leu;Ser280=] | |
| NM_001369574.1:c.[829C>A;836C>T;843C>G] | NP_001356503.1:p.[Leu277Ile;Pro279Leu;Ser281=] | |
| NM_001369575.1:c.[757C>A;764C>T;771C>G] | NP_001356504.1:p.[Leu253Ile;Pro255Leu;Ser257=] | |
| NM_001369576.1:c.[754C>A;761C>T;768C>G] | NP_001356505.1:p.[Leu252Ile;Pro254Leu;Ser256=] | |
| NM_001369577.1:c.[757C>A;764C>T;771C>G] | NP_001356506.1:p.[Leu253Ile;Pro255Leu;Ser257=] | |
| NM_001369578.1:c.[754C>A;761C>T;768C>G] | NP_001356507.1:p.[Leu252Ile;Pro254Leu;Ser256=] | |
| NM_001369579.1:c.[757C>A;764C>T;771C>G] | NP_001356508.1:p.[Leu253Ile;Pro255Leu;Ser257=] | |
| NM_001369580.1:c.[757C>A;764C>T;771C>G] | NP_001356509.1:p.[Leu253Ile;Pro255Leu;Ser257=] | |
| NM_001369581.1:c.[754C>A;761C>T;768C>G] | NP_001356510.1:p.[Leu252Ile;Pro254Leu;Ser256=] | |
| NM_001369582.1:c.[757C>A;764C>T;771C>G] | NP_001356511.1:p.[Leu253Ile;Pro255Leu;Ser257=] | |
| NM_001369583.1:c.[757C>A;764C>T;771C>G] | NP_001356512.1:p.[Leu253Ile;Pro255Leu;Ser257=] | |
| NM_001369584.1:c.[754C>A;761C>T;768C>G] | NP_001356513.1:p.[Leu252Ile;Pro254Leu;Ser256=] | |
| NM_001369585.1:c.[754C>A;761C>T;768C>G] | NP_001356514.1:p.[Leu252Ile;Pro254Leu;Ser256=] | |
| NM_001369586.1:c.[757C>A;764C>T;771C>G] | NP_001356515.1:p.[Leu253Ile;Pro255Leu;Ser257=] | |
| NM_003199.3:c.[829C>A;836C>T;843C>G] | NP_003190.1:p.[Leu277Ile;Pro279Leu;Ser281=] | |
| NM_001243230.2:c.[823C>A;830C>T;837C>G] | NP_001230159.1:p.[Leu275Ile;Pro277Leu;Ser279=] |