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.[55269908G>A;55269910G>C;55269925A>T] , CM000680.2:g.[55269908G>A;55269910G>C;55269925A>T] | GRCh38 |
| NC_000018.9:g.[52937139G>A;52937141G>C;52937156A>T] , CM000680.1:g.[52937139G>A;52937141G>C;52937156A>T] | GRCh37 |
| NC_000018.8:g.[51088137G>A;51088139G>C;51088154A>T] | NCBI36 |
| NG_011716.1:g.[323705T>A;323720C>G;323722C>T] | |
| NG_011716.2:g.[371069T>A;371084C>G;371086C>T] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354452.8:c.[828T>A;843C>G;845C>T] MANE Select | ENSP00000346440.3:p.[Ser276Arg;Ser281=;Thr282Ile] | |
| ENST00000630720.3:c.[348T>A;363C>G;365C>T] | ENSP00000487218.1:p.[Ser116Arg;Ser121=;Thr122Ile] | |
| ENST00000635822.2:c.[828T>A;843C>G;845C>T] | ENSP00000490451.1:p.[Ser276Arg;Thr282Ile] | |
| ENST00000635990.2:n.[508T>A;523C>G;525C>T] | ||
| ENST00000636400.2:c.[756T>A;771C>G;773C>T] | ENSP00000490006.1:p.[Ser252Arg;Thr258Leu] | |
| ENST00000636751.2:c.[*536T>A;*551C>G;*553C>T] | ENSP00000489783.1:n.[*536T>A;*551C>G;*553C>T] | |
| ENST00000636822.2:c.[438T>A;453C>G;455C>T] | ENSP00000490883.1:p.[Ser146Arg;Thr152Val] | |
| ENST00000637115.2:c.[*718T>A;*733C>G;*735C>T] | ENSP00000490234.1:n.[*718T>A;*733C>G;*735C>T] | |
| ENST00000637169.2:c.[180T>A;195C>G;197C>T] | ENSP00000490832.1:p.[Ser60Arg;Thr66Ile] | |
| ENST00000637239.2:n.[895T>A;910C>G;912C>T] | ||
| ENST00000637250.2:n.[522T>A;537C>G;539C>T] | ||
| ENST00000637923.2:c.[426T>A;441C>G;443C>T] | ||
| ENST00000638154.3:c.[858T>A;873C>G;875C>T] | ENSP00000490625.2:p.[Ser286Arg;Thr292Leu] | |
| ENST00000643689.1:c.[438T>A;453C>G;455C>T] | ENSP00000494380.1:p.[Ser146Arg;Ser151=;Thr152Ile] | |
| ENST00000674764.1:c.[*439T>A;*454C>G;*456C>T] | ENSP00000502213.1:n.[*439T>A;*454C>G;*456C>T] | |
| ENST00000675707.1:c.[438T>A;453C>G;455C>T] | ENSP00000501758.1:p.[Ser146Arg;Ser151=;Thr152Ile] | |
| ENST00000354452.7:c.[828T>A;843C>G;845C>T] | ENSP00000346440.3:p.[Ser276Arg;Thr282Ile] | |
| ENST00000356073.8:c.[828T>A;843C>G;845C>T] | ENSP00000348374.4:p.[Ser276Arg;Ser281=;Thr282Ile] | |
| ENST00000398339.5:c.[1134T>A;1149C>G;1151C>T] | ENSP00000381382.1:p.[Ser378Arg;Ser383=;Thr384Ile] | |
| ENST00000457482.7:c.[348T>A;363C>G;365C>T] | ENSP00000409447.2:p.[Ser116Arg;Ser121=;Thr122Ile] | |
| ENST00000537578.5:c.[756T>A;771C>G;773C>T] | ENSP00000440731.1:p.[Ser252Arg;Ser257=;Thr258Ile] | |
| ENST00000537856.7:c.[438T>A;453C>G;455C>T] | ENSP00000439827.2:p.[Ser146Arg;Ser151=;Thr152Ile] | |
| ENST00000540999.5:c.[756T>A;771C>G;773C>T] | ENSP00000445202.1:p.[Ser252Arg;Ser257=;Thr258Ile] | |
| ENST00000543082.5:c.[702T>A;717C>G;719C>T] | ENSP00000439656.1:p.[Ser234Arg;Ser239=;Thr240Ile] | |
| ENST00000544241.6:c.[615T>A;630C>G;632C>T] | ENSP00000441562.2:p.[Ser205Arg;Thr211Leu] | |
| ENST00000561831.7:c.[348T>A;363C>G;365C>T] | ENSP00000457765.1:p.[Ser116Arg;Ser121=;Thr122Ile] | |
| ENST00000561992.5:c.[438T>A;453C>G;455C>T] | ENSP00000455179.1:p.[Ser146Arg;Ser151=;Thr152Ile] | |
| ENST00000562030.3:c.[438T>A;453C>G;455C>T] | ENSP00000456220.2:p.[Ser146Arg;Ser151=;Thr152Ile] | |
| ENST00000562607.5:c.[438T>A;453C>G;455C>T] | ENSP00000455071.2:p.[Ser146Arg;Ser151=;Thr152Ile] | |
| ENST00000562680.5:n.[919T>A;934C>G;936C>T] | ||
| ENST00000563686.5:n.[683T>A;698C>G;700C>T] | ||
| ENST00000563760.5:n.[420T>A;435C>G;437C>T] | ||
| ENST00000564228.5:c.[615T>A;630C>G;632C>T] | ENSP00000455261.1:p.[Ser205Arg;Ser210=;Thr211Ile] | |
| ENST00000564403.6:c.[846T>A;861C>G;863C>T] | ENSP00000457263.1:p.[Ser282Arg;Thr288Phe] | |
| ENST00000564999.5:c.[828T>A;843C>G;845C>T] | ENSP00000457649.1:p.[Ser276Arg;Thr282Val] | |
| ENST00000565018.6:c.[576T>A;591C>G;593C>T] | ENSP00000455984.2:p.[Ser192Arg;Ser197=;Thr198Ile] | |
| ENST00000566279.5:c.[648T>A;663C>G;665C>T] | ENSP00000456125.1:p.[Ser216Arg;Ser221=;Thr222Ile] | |
| ENST00000566286.5:c.[822T>A;837C>G;839C>T] | ENSP00000455418.2:p.[Ser274Arg;Ser279=;Thr280Ile] | |
| ENST00000566514.5:c.[789T>A;804C>G;806C>T] | ENSP00000456983.2:p.[Ser263Arg;Ser268=;Thr269Ile] | |
| ENST00000567880.5:c.[648T>A;663C>G;665C>T] | ENSP00000454366.1:p.[Ser216Arg;Ser221=;Thr222Ile] | |
| ENST00000568673.5:c.[756T>A;771C>G;773C>T] | ENSP00000455135.1:p.[Ser252Arg;Thr258Ile] | |
| ENST00000568740.5:c.[753T>A;768C>G;770C>T] | ENSP00000455346.1:p.[Ser251Arg;Ser256=;Thr257Ile] | |
| ENST00000569012.5:c.[438T>A;453C>G;455C>T] | ENSP00000455304.1:p.[Ser146Arg;Ser151=;Thr152Ile] | |
| ENST00000570146.3:c.[92T>A;107C>G;109C>T] | ||
| ENST00000570177.6:c.[438T>A;453C>G;455C>T] | ENSP00000454647.1:p.[Ser146Arg;Ser151=;Thr152Ile] | |
| ENST00000570287.6:c.[348T>A;363C>G;365C>T] | ENSP00000455763.1:p.[Ser116Arg;Thr122Ile] | |
| ENST00000616053.4:c.[576T>A;591C>G;593C>T] | ENSP00000478549.1:p.[Ser192Arg;Ser197=;Thr198Ile] | |
| ENST00000625849.2:n.[688T>A;703C>G;705C>T] | ||
| ENST00000626584.2:c.[180T>A;195C>G;197C>T] | ENSP00000486072.1:p.[Ser60Arg;Ser65=;Thr66Ile] | |
| ENST00000627136.2:n.[524-8392T>A;524-8377C>G;524-8375C>T] | ||
| ENST00000628078.2:c.[438T>A;453C>G;455C>T] | ENSP00000486909.1:p.[Ser146Arg;Ser151=;Thr152Ile] | |
| ENST00000628636.2:c.[438T>A;453C>G;455C>T] | ENSP00000485755.1:p.[Ser146Arg;Thr152Ile] | |
| ENST00000628689.2:c.[214T>A;229C>G;231C>T] | ENSP00000487010.1:p.[Ser72Thr;His77Val] | |
| ENST00000629343.2:c.[438T>A;453C>G;455C>T] | ENSP00000486148.1:p.[Ser146Arg;Thr152Ile] | |
| ENST00000629387.2:c.[828T>A;843C>G;845C>T] | ENSP00000486670.1:p.[Ser276Arg;Ser281=;Thr282Ile] | |
| ENST00000630268.2:c.[438T>A;453C>G;455C>T] | ENSP00000486405.1:p.[Ser146Arg;Thr152Leu] | |
| ENST00000630720.2:c.[348T>A;363C>G;365C>T] | ENSP00000487218.1:p.[Ser116Arg;Ser121=;Thr122Ile] | |
| ENST00000630828.2:c.[618T>A;633C>G;635C>T] | ENSP00000486974.1:p.[Ser206Arg;Thr212Phe] | |
| NM_001083962.1:c.[828T>A;843C>G;845C>T] | NP_001077431.1:p.[Ser276Arg;Ser281=;Thr282Ile] | |
| NM_001243226.2:c.[1134T>A;1149C>G;1151C>T] | NP_001230155.2:p.[Ser378Arg;Ser383=;Thr384Ile] | |
| NM_001243227.1:c.[756T>A;771C>G;773C>T] | NP_001230156.1:p.[Ser252Arg;Thr258Leu] | |
| NM_001243228.1:c.[846T>A;861C>G;863C>T] | NP_001230157.1:p.[Ser282Arg;Ser287=;Thr288Ile] | |
| NM_001243230.1:c.[822T>A;837C>G;839C>T] | NP_001230159.1:p.[Ser274Arg;Ser279=;Thr280Ile] | |
| NM_001243231.1:c.[702T>A;717C>G;719C>T] | NP_001230160.1:p.[Ser234Arg;Ser239=;Thr240Ile] | |
| NM_001243232.1:c.[615T>A;630C>G;632C>T] | NP_001230161.1:p.[Ser205Arg;Thr211Leu] | |
| NM_001243233.1:c.[438T>A;453C>G;455C>T] | NP_001230162.1:p.[Ser146Arg;Ser151=;Thr152Ile] | |
| NM_001243234.1:c.[348T>A;363C>G;365C>T] | NP_001230163.1:p.[Ser116Arg;Ser121=;Thr122Ile] | |
| NM_001243235.1:c.[348T>A;363C>G;365C>T] | NP_001230164.1:p.[Ser116Arg;Ser121=;Thr122Ile] | |
| NM_001243236.1:c.[348T>A;363C>G;365C>T] | NP_001230165.1:p.[Ser116Arg;Thr122Val] | |
| NM_001306207.1:c.[756T>A;771C>G;773C>T] | NP_001293136.1:p.[Ser252Arg;Ser257=;Thr258Ile] | |
| NM_001306208.1:c.[615T>A;630C>G;632C>T] | NP_001293137.1:p.[Ser205Arg;Thr211Leu] | |
| NM_003199.2:c.[828T>A;843C>G;845C>T] | NP_003190.1:p.[Ser276Arg;Ser281=;Thr282Ile] | |
| XM_005266739.3:c.[756T>A;771C>G;773C>T] | XP_005266796.2:p.[Ser252Arg;Ser257=;Thr258Ile] | |
| XM_005266741.3:c.[825T>A;840C>G;842C>T] | XP_005266798.1:p.[Ser275Arg;Thr281Val] | |
| XM_005266743.3:c.[756T>A;771C>G;773C>T] | XP_005266800.1:p.[Ser252Arg;Ser257=;Thr258Ile] | |
| XM_005266744.3:c.[756T>A;771C>G;773C>T] | XP_005266801.1:p.[Ser252Arg;Ser257=;Thr258Ile] | |
| XM_005266745.3:c.[753T>A;768C>G;770C>T] | XP_005266802.1:p.[Ser251Arg;Ser256=;Thr257Ile] | |
| XM_005266747.3:c.[702T>A;717C>G;719C>T] | XP_005266804.1:p.[Ser234Arg;Ser239=;Thr240Ile] | |
| XM_005266749.3:c.[618T>A;633C>G;635C>T] | XP_005266806.1:p.[Ser206Arg;Thr212Phe] | |
| XM_005266752.3:c.[438T>A;453C>G;455C>T] | XP_005266809.1:p.[Ser146Arg;Ser151=;Thr152Ile] | |
| XM_005266754.3:c.[438T>A;453C>G;455C>T] | XP_005266811.1:p.[Ser146Arg;Thr152Leu] | |
| XM_005266755.3:c.[438T>A;453C>G;455C>T] | XP_005266812.1:p.[Ser146Arg;Thr152Ile] | |
| XM_005266761.3:c.[348T>A;363C>G;365C>T] | XP_005266818.1:p.[Ser116Arg;Ser121=;Thr122Ile] | |
| XM_006722536.2:c.[828T>A;843C>G;845C>T] | XP_006722599.1:p.[Ser276Arg;Ser281=;Thr282Ile] | |
| XM_006722537.2:c.[828T>A;843C>G;845C>T] | XP_006722600.1:p.[Ser276Arg;Ser281=;Thr282Ile] | |
| XM_006722538.2:c.[753T>A;768C>G;770C>T] | XP_006722601.1:p.[Ser251Arg;Ser256=;Thr257Ile] | |
| XM_006722539.2:c.[438T>A;453C>G;455C>T] | XP_006722602.1:p.[Ser146Arg;Ser151=;Thr152Ile] | |
| XM_006722540.2:c.[438T>A;453C>G;455C>T] | XP_006722603.1:p.[Ser146Arg;Ser151=;Thr152Ile] | |
| XM_011526154.1:c.[1131T>A;1146C>G;1148C>T] | XP_011524456.1:p.[Ser377Arg;Ser382=;Thr383Ile] | |
| XM_011526155.1:c.[1134T>A;1149C>G;1151C>T] | XP_011524457.1:p.[Ser378Arg;Ser383=;Thr384Ile] | |
| XM_011526156.1:c.[1134T>A;1149C>G;1151C>T] | XP_011524458.1:p.[Ser378Arg;Ser383=;Thr384Ile] | |
| XM_011526157.1:c.[1131T>A;1146C>G;1148C>T] | XP_011524459.1:p.[Ser377Arg;Ser382=;Thr383Ile] | |
| XM_011526158.1:c.[822T>A;837C>G;839C>T] | XP_011524460.1:p.[Ser274Arg;Ser279=;Thr280Ile] | |
| XM_011526159.1:c.[438T>A;453C>G;455C>T] | XP_011524461.1:p.[Ser146Arg;Thr152Phe] | |
| XM_011526160.1:c.[438T>A;453C>G;455C>T] | XP_011524462.1:p.[Ser146Arg;Ser151=;Thr152Ile] | |
| XM_011526161.1:c.[438T>A;453C>G;455C>T] | XP_011524463.1:p.[Ser146Arg;Ser151=;Thr152Ile] | |
| XM_011526162.1:c.[438T>A;453C>G;455C>T] | XP_011524464.1:p.[Ser146Arg;Ser151=;Thr152Ile] | |
| XM_011526163.1:c.[438T>A;453C>G;455C>T] | XP_011524465.1:p.[Ser146Arg;Ser151=;Thr152Ile] | |
| XM_011526164.1:c.[438T>A;453C>G;455C>T] | XP_011524466.1:p.[Ser146Arg;Ser151=;Thr152Ile] | |
| NM_001330604.2:c.[828T>A;843C>G;845C>T] | NP_001317533.1:p.[Ser276Arg;Ser281=;Thr282Ile] | |
| NM_001330605.2:c.[438T>A;453C>G;455C>T] | NP_001317534.1:p.[Ser146Arg;Thr152Leu] | |
| NM_001348211.1:c.[702T>A;717C>G;719C>T] | NP_001335140.1:p.[Ser234Arg;Ser239=;Thr240Ile] | |
| NM_001348212.1:c.[438T>A;453C>G;455C>T] | NP_001335141.1:p.[Ser146Arg;Ser151=;Thr152Ile] | |
| NM_001348213.1:c.[438T>A;453C>G;455C>T] | NP_001335142.1:p.[Ser146Arg;Ser151=;Thr152Ile] | |
| NM_001348214.1:c.[348T>A;363C>G;365C>T] | NP_001335143.1:p.[Ser116Arg;Ser121=;Thr122Ile] | |
| NM_001348215.1:c.[180T>A;195C>G;197C>T] | NP_001335144.1:p.[Ser60Arg;Ser65=;Thr66Ile] | |
| NM_001348216.1:c.[348T>A;363C>G;365C>T] | NP_001335145.1:p.[Ser116Arg;Ser121=;Thr122Ile] | |
| NM_001348217.1:c.[756T>A;771C>G;773C>T] | NP_001335146.1:p.[Ser252Arg;Ser257=;Thr258Ile] | |
| NM_001348218.1:c.[756T>A;771C>G;773C>T] | NP_001335147.1:p.[Ser252Arg;Ser257=;Thr258Ile] | |
| NM_001348219.1:c.[756T>A;771C>G;773C>T] | NP_001335148.1:p.[Ser252Arg;Ser257=;Thr258Ile] | |
| NM_001348220.1:c.[753T>A;768C>G;770C>T] | NP_001335149.1:p.[Ser251Arg;Ser256=;Thr257Ile] | |
| XM_005266739.4:c.[756T>A;771C>G;773C>T] | XP_005266796.2:p.[Ser252Arg;Ser257=;Thr258Ile] | |
| XM_005266741.4:c.[825T>A;840C>G;842C>T] | XP_005266798.1:p.[Ser275Arg;Thr281Val] | |
| XM_005266745.4:c.[753T>A;768C>G;770C>T] | XP_005266802.1:p.[Ser251Arg;Thr257Phe] | |
| XM_005266749.4:c.[618T>A;633C>G;635C>T] | XP_005266806.1:p.[Ser206Arg;Thr212Phe] | |
| XM_005266752.5:c.[438T>A;453C>G;455C>T] | XP_005266809.1:p.[Ser146Arg;Ser151=;Thr152Ile] | |
| XM_005266755.5:c.[438T>A;453C>G;455C>T] | XP_005266812.1:p.[Ser146Arg;Ser151=;Thr152Ile] | |
| XM_005266761.4:c.[348T>A;363C>G;365C>T] | XP_005266818.1:p.[Ser116Arg;Ser121=;Thr122Ile] | |
| XM_006722536.3:c.[828T>A;843C>G;845C>T] | XP_006722599.1:p.[Ser276Arg;Ser281=;Thr282Ile] | |
| XM_006722537.3:c.[828T>A;843C>G;845C>T] | XP_006722600.1:p.[Ser276Arg;Ser281=;Thr282Ile] | |
| XM_006722538.3:c.[753T>A;768C>G;770C>T] | XP_006722601.1:p.[Ser251Arg;Ser256=;Thr257Ile] | |
| XM_017025934.2:c.[753T>A;768C>G;770C>T] | XP_016881423.1:p.[Ser251Arg;Ser256=;Thr257Ile] | |
| XM_017025935.2:c.[756T>A;771C>G;773C>T] | XP_016881424.1:p.[Ser252Arg;Ser257=;Thr258Ile] | |
| XM_017025936.2:c.[756T>A;771C>G;773C>T] | XP_016881425.1:p.[Ser252Arg;Ser257=;Thr258Ile] | |
| XM_017025937.2:c.[753T>A;768C>G;770C>T] | XP_016881426.1:p.[Ser251Arg;Ser256=;Thr257Ile] | |
| XM_017025938.2:c.[825T>A;840C>G;842C>T] | XP_016881427.1:p.[Ser275Arg;Ser280=;Thr281Ile] | |
| XM_017025940.2:c.[828T>A;843C>G;845C>T] | XP_016881429.1:p.[Ser276Arg;Ser281=;Thr282Ile] | |
| XM_017025941.2:c.[828T>A;843C>G;845C>T] | XP_016881430.1:p.[Ser276Arg;Ser281=;Thr282Ile] | |
| XM_017025942.2:c.[825T>A;840C>G;842C>T] | XP_016881431.1:p.[Ser275Arg;Thr281Val] | |
| XM_017025943.2:c.[828T>A;843C>G;845C>T] | XP_016881432.1:p.[Ser276Arg;Thr282Ile] | |
| XM_017025944.2:c.[753T>A;768C>G;770C>T] | XP_016881433.1:p.[Ser251Arg;Ser256=;Thr257Ile] | |
| XM_017025945.2:c.[756T>A;771C>G;773C>T] | XP_016881434.1:p.[Ser252Arg;Ser257=;Thr258Ile] | |
| XM_017025946.2:c.[756T>A;771C>G;773C>T] | XP_016881435.1:p.[Ser252Arg;Ser257=;Thr258Ile] | |
| XM_017025948.2:c.[753T>A;768C>G;770C>T] | XP_016881437.1:p.[Ser251Arg;Ser256=;Thr257Ile] | |
| XM_017025950.2:c.[753T>A;768C>G;770C>T] | XP_016881439.1:p.[Ser251Arg;Ser256=;Thr257Ile] | |
| XM_017025951.2:c.[702T>A;717C>G;719C>T] | XP_016881440.1:p.[Ser234Arg;Ser239=;Thr240Ile] | |
| XM_017025952.2:c.[615T>A;630C>G;632C>T] | XP_016881441.1:p.[Ser205Arg;Ser210=;Thr211Ile] | |
| XM_017025953.2:c.[618T>A;633C>G;635C>T] | XP_016881442.1:p.[Ser206Arg;Thr212Phe] | |
| XM_017025954.2:c.[438T>A;453C>G;455C>T] | XP_016881443.1:p.[Ser146Arg;Ser151=;Thr152Ile] | |
| XM_017025956.2:c.[438T>A;453C>G;455C>T] | XP_016881445.1:p.[Ser146Arg;Thr152Leu] | |
| XM_024451240.1:c.[756T>A;771C>G;773C>T] | XP_024307008.1:p.[Ser252Arg;Ser257=;Thr258Ile] | |
| XM_024451241.1:c.[591T>A;606C>G;608C>T] | XP_024307009.1:p.[Ser197Arg;Ser202=;Thr203Ile] | |
| NM_001083962.2:c.[828T>A;843C>G;845C>T] MANE Select | NP_001077431.1:p.[Ser276Arg;Ser281=;Thr282Ile] | |
| NM_001243226.3:c.[1134T>A;1149C>G;1151C>T] | NP_001230155.2:p.[Ser378Arg;Ser383=;Thr384Ile] | |
| NM_001243227.2:c.[756T>A;771C>G;773C>T] | NP_001230156.1:p.[Ser252Arg;Thr258Leu] | |
| NM_001243228.2:c.[846T>A;861C>G;863C>T] | NP_001230157.1:p.[Ser282Arg;Ser287=;Thr288Ile] | |
| NM_001243231.2:c.[702T>A;717C>G;719C>T] | NP_001230160.1:p.[Ser234Arg;Ser239=;Thr240Ile] | |
| NM_001243233.2:c.[438T>A;453C>G;455C>T] | NP_001230162.1:p.[Ser146Arg;Ser151=;Thr152Ile] | |
| NM_001243234.2:c.[348T>A;363C>G;365C>T] | NP_001230163.1:p.[Ser116Arg;Ser121=;Thr122Ile] | |
| NM_001243235.2:c.[348T>A;363C>G;365C>T] | NP_001230164.1:p.[Ser116Arg;Ser121=;Thr122Ile] | |
| NM_001243236.2:c.[348T>A;363C>G;365C>T] | NP_001230165.1:p.[Ser116Arg;Thr122Val] | |
| NM_001330604.3:c.[828T>A;843C>G;845C>T] | NP_001317533.1:p.[Ser276Arg;Ser281=;Thr282Ile] | |
| NM_001330605.3:c.[438T>A;453C>G;455C>T] | NP_001317534.1:p.[Ser146Arg;Ser151=;Thr152Ile] | |
| NM_001348211.2:c.[702T>A;717C>G;719C>T] | NP_001335140.1:p.[Ser234Arg;Ser239=;Thr240Ile] | |
| NM_001348212.2:c.[438T>A;453C>G;455C>T] | NP_001335141.1:p.[Ser146Arg;Ser151=;Thr152Ile] | |
| NM_001348213.2:c.[438T>A;453C>G;455C>T] | NP_001335142.1:p.[Ser146Arg;Ser151=;Thr152Ile] | |
| NM_001348214.2:c.[348T>A;363C>G;365C>T] | NP_001335143.1:p.[Ser116Arg;Ser121=;Thr122Ile] | |
| NM_001348215.2:c.[180T>A;195C>G;197C>T] | NP_001335144.1:p.[Ser60Arg;Ser65=;Thr66Ile] | |
| NM_001348216.2:c.[348T>A;363C>G;365C>T] | NP_001335145.1:p.[Ser116Arg;Thr122Val] | |
| NM_001348218.2:c.[756T>A;771C>G;773C>T] | NP_001335147.1:p.[Ser252Arg;Ser257=;Thr258Ile] | |
| NM_001348219.2:c.[756T>A;771C>G;773C>T] | NP_001335148.1:p.[Ser252Arg;Ser257=;Thr258Ile] | |
| NM_001369567.1:c.[828T>A;843C>G;845C>T] | NP_001356496.1:p.[Ser276Arg;Ser281=;Thr282Ile] | |
| NM_001369568.1:c.[828T>A;843C>G;845C>T] | NP_001356497.1:p.[Ser276Arg;Ser281=;Thr282Ile] | |
| NM_001369569.1:c.[825T>A;840C>G;842C>T] | NP_001356498.1:p.[Ser275Arg;Ser280=;Thr281Ile] | |
| NM_001369570.1:c.[825T>A;840C>G;842C>T] | NP_001356499.1:p.[Ser275Arg;Ser280=;Thr281Ile] | |
| NM_001369571.1:c.[828T>A;843C>G;845C>T] | NP_001356500.1:p.[Ser276Arg;Ser281=;Thr282Ile] | |
| NM_001369572.1:c.[828T>A;843C>G;845C>T] | NP_001356501.1:p.[Ser276Arg;Ser281=;Thr282Ile] | |
| NM_001369573.1:c.[825T>A;840C>G;842C>T] | NP_001356502.1:p.[Ser275Arg;Ser280=;Thr281Ile] | |
| NM_001369574.1:c.[828T>A;843C>G;845C>T] | NP_001356503.1:p.[Ser276Arg;Ser281=;Thr282Ile] | |
| NM_001369575.1:c.[756T>A;771C>G;773C>T] | NP_001356504.1:p.[Ser252Arg;Thr258Leu] | |
| NM_001369576.1:c.[753T>A;768C>G;770C>T] | NP_001356505.1:p.[Ser251Arg;Thr257Val] | |
| NM_001369577.1:c.[756T>A;771C>G;773C>T] | NP_001356506.1:p.[Ser252Arg;Thr258Leu] | |
| NM_001369578.1:c.[753T>A;768C>G;770C>T] | NP_001356507.1:p.[Ser251Arg;Thr257Phe] | |
| NM_001369579.1:c.[756T>A;771C>G;773C>T] | NP_001356508.1:p.[Ser252Arg;Thr258Leu] | |
| NM_001369580.1:c.[756T>A;771C>G;773C>T] | NP_001356509.1:p.[Ser252Arg;Ser257=;Thr258Ile] | |
| NM_001369581.1:c.[753T>A;768C>G;770C>T] | NP_001356510.1:p.[Ser251Arg;Ser256=;Thr257Ile] | |
| NM_001369582.1:c.[756T>A;771C>G;773C>T] | NP_001356511.1:p.[Ser252Arg;Thr258Leu] | |
| NM_001369583.1:c.[756T>A;771C>G;773C>T] | NP_001356512.1:p.[Ser252Arg;Thr258Leu] | |
| NM_001369584.1:c.[753T>A;768C>G;770C>T] | NP_001356513.1:p.[Ser251Arg;Thr257Val] | |
| NM_001369585.1:c.[753T>A;768C>G;770C>T] | NP_001356514.1:p.[Ser251Arg;Thr257Phe] | |
| NM_001369586.1:c.[756T>A;771C>G;773C>T] | NP_001356515.1:p.[Ser252Arg;Thr258Leu] | |
| NM_003199.3:c.[828T>A;843C>G;845C>T] | NP_003190.1:p.[Ser276Arg;Ser281=;Thr282Ile] | |
| NM_001243230.2:c.[822T>A;837C>G;839C>T] | NP_001230159.1:p.[Ser274Arg;Ser279=;Thr280Ile] |