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.[55269905A>C;55269929G>C;55269932T>C;55269935A>T] , CM000680.2:g.[55269905A>C;55269929G>C;55269932T>C;55269935A>T] | GRCh38 |
| NC_000018.9:g.[52937136A>C;52937160G>C;52937163T>C;52937166A>T] , CM000680.1:g.[52937136A>C;52937160G>C;52937163T>C;52937166A>T] | GRCh37 |
| NC_000018.8:g.[51088134A>C;51088158G>C;51088161T>C;51088164A>T] | NCBI36 |
| NG_011716.1:g.[323695T>A;323698A>G;323701C>G;323725T>G] | |
| NG_011716.2:g.[371059T>A;371062A>G;371065C>G;371089T>G] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354452.8:c.[818T>A;821A>G;824C>G;848T>G] MANE Select | ENSP00000346440.3:p.[Ile273Asn;Asn274Ser;Ser275Cys;Phe283Cys]... | |
| ENST00000630720.3:c.[338T>A;341A>G;344C>G;368T>G] | ENSP00000487218.1:p.[Ile113Asn;Asn114Ser;Ser115Cys;Phe123Cys]... | |
| ENST00000635822.2:c.[818T>A;821A>G;824C>G;848T>G] | ENSP00000490451.1:p.[Ile273Asn;Asn274Ser;Ser275Cys;Phe283Cys]... | |
| ENST00000635990.2:n.[498T>A;501A>G;504C>G;528T>G] | ||
| ENST00000636400.2:c.[746T>A;749A>G;752C>G;776T>G] | ENSP00000490006.1:p.[Ile249Asn;Asn250Ser;Ser251Cys;Phe259Cys]... | |
| ENST00000636751.2:c.[*526T>A;*529A>G;*532C>G;*556T>G] | ENSP00000489783.1:n.[*526T>A;*529A>G;*532C>G;*556T>G] | |
| ENST00000636822.2:c.[428T>A;431A>G;434C>G;458T>G] | ENSP00000490883.1:p.[Ile143Asn;Asn144Ser;Ser145Cys;Phe153Cys]... | |
| ENST00000637115.2:c.[*708T>A;*711A>G;*714C>G;*738T>G] | ENSP00000490234.1:n.[*708T>A;*711A>G;*714C>G;*738T>G] | |
| ENST00000637169.2:c.[170T>A;173A>G;176C>G;200T>G] | ENSP00000490832.1:p.[Ile57Asn;Asn58Ser;Ser59Cys;Phe67Cys] | |
| ENST00000637239.2:n.[885T>A;888A>G;891C>G;915T>G] | ||
| ENST00000637250.2:n.[512T>A;515A>G;518C>G;542T>G] | ||
| ENST00000637923.2:c.[416T>A;419A>G;422C>G;446T>G] | ||
| ENST00000638154.3:c.[848T>A;851A>G;854C>G;878T>G] | ENSP00000490625.2:p.[Ile283Asn;Asn284Ser;Ser285Cys;Phe293Cys]... | |
| ENST00000643689.1:c.[428T>A;431A>G;434C>G;458T>G] | ENSP00000494380.1:p.[Ile143Asn;Asn144Ser;Ser145Cys;Phe153Cys]... | |
| ENST00000674764.1:c.[*429T>A;*432A>G;*435C>G;*459T>G] | ENSP00000502213.1:n.[*429T>A;*432A>G;*435C>G;*459T>G] | |
| ENST00000675707.1:c.[428T>A;431A>G;434C>G;458T>G] | ENSP00000501758.1:p.[Ile143Asn;Asn144Ser;Ser145Cys;Phe153Cys]... | |
| ENST00000354452.7:c.[818T>A;821A>G;824C>G;848T>G] | ENSP00000346440.3:p.[Ile273Asn;Asn274Ser;Ser275Cys;Phe283Cys]... | |
| ENST00000356073.8:c.[818T>A;821A>G;824C>G;848T>G] | ENSP00000348374.4:p.[Ile273Asn;Asn274Ser;Ser275Cys;Phe283Cys]... | |
| ENST00000398339.5:c.[1124T>A;1127A>G;1130C>G;1154T>G] | ENSP00000381382.1:p.[Ile375Asn;Asn376Ser;Ser377Cys;Phe385Cys]... | |
| ENST00000457482.7:c.[338T>A;341A>G;344C>G;368T>G] | ENSP00000409447.2:p.[Ile113Asn;Asn114Ser;Ser115Cys;Phe123Cys]... | |
| ENST00000537578.5:c.[746T>A;749A>G;752C>G;776T>G] | ENSP00000440731.1:p.[Ile249Asn;Asn250Ser;Ser251Cys;Phe259Cys]... | |
| ENST00000537856.7:c.[428T>A;431A>G;434C>G;458T>G] | ENSP00000439827.2:p.[Ile143Asn;Asn144Ser;Ser145Cys;Phe153Cys]... | |
| ENST00000540999.5:c.[746T>A;749A>G;752C>G;776T>G] | ENSP00000445202.1:p.[Ile249Asn;Asn250Ser;Ser251Cys;Phe259Cys]... | |
| ENST00000543082.5:c.[692T>A;695A>G;698C>G;722T>G] | ENSP00000439656.1:p.[Ile231Asn;Asn232Ser;Ser233Cys;Phe241Cys]... | |
| ENST00000544241.6:c.[605T>A;608A>G;611C>G;635T>G] | ENSP00000441562.2:p.[Ile202Asn;Asn203Ser;Ser204Cys;Phe212Cys]... | |
| ENST00000561831.7:c.[338T>A;341A>G;344C>G;368T>G] | ENSP00000457765.1:p.[Ile113Asn;Asn114Ser;Ser115Cys;Phe123Cys]... | |
| ENST00000561992.5:c.[428T>A;431A>G;434C>G;458T>G] | ENSP00000455179.1:p.[Ile143Asn;Asn144Ser;Ser145Cys;Phe153Cys]... | |
| ENST00000562030.3:c.[428T>A;431A>G;434C>G;458T>G] | ENSP00000456220.2:p.[Ile143Asn;Asn144Ser;Ser145Cys;Phe153Cys]... | |
| ENST00000562607.5:c.[428T>A;431A>G;434C>G;458T>G] | ENSP00000455071.2:p.[Ile143Asn;Asn144Ser;Ser145Cys;Phe153Cys]... | |
| ENST00000562680.5:n.[909T>A;912A>G;915C>G;939T>G] | ||
| ENST00000563686.5:n.[673T>A;676A>G;679C>G;703T>G] | ||
| ENST00000563760.5:n.[410T>A;413A>G;416C>G;440T>G] | ||
| ENST00000564228.5:c.[605T>A;608A>G;611C>G;635T>G] | ENSP00000455261.1:p.[Ile202Asn;Asn203Ser;Ser204Cys;Phe212Cys]... | |
| ENST00000564403.6:c.[836T>A;839A>G;842C>G;866T>G] | ENSP00000457263.1:p.[Ile279Asn;Asn280Ser;Ser281Cys;Phe289Cys]... | |
| ENST00000564999.5:c.[818T>A;821A>G;824C>G;848T>G] | ENSP00000457649.1:p.[Ile273Asn;Asn274Ser;Ser275Cys;Phe283Cys]... | |
| ENST00000565018.6:c.[566T>A;569A>G;572C>G;596T>G] | ENSP00000455984.2:p.[Ile189Asn;Asn190Ser;Ser191Cys;Phe199Cys]... | |
| ENST00000566279.5:c.[638T>A;641A>G;644C>G;668T>G] | ENSP00000456125.1:p.[Ile213Asn;Asn214Ser;Ser215Cys;Phe223Cys]... | |
| ENST00000566286.5:c.[812T>A;815A>G;818C>G;842T>G] | ENSP00000455418.2:p.[Ile271Asn;Asn272Ser;Ser273Cys;Phe281Cys]... | |
| ENST00000566514.5:c.[779T>A;782A>G;785C>G;809T>G] | ENSP00000456983.2:p.[Ile260Asn;Asn261Ser;Ser262Cys;Phe270Cys]... | |
| ENST00000567880.5:c.[638T>A;641A>G;644C>G;668T>G] | ENSP00000454366.1:p.[Ile213Asn;Asn214Ser;Ser215Cys;Phe223Cys]... | |
| ENST00000568673.5:c.[746T>A;749A>G;752C>G;776T>G] | ENSP00000455135.1:p.[Ile249Asn;Asn250Ser;Ser251Cys;Phe259Cys]... | |
| ENST00000568740.5:c.[743T>A;746A>G;749C>G;773T>G] | ENSP00000455346.1:p.[Ile248Asn;Asn249Ser;Ser250Cys;Phe258Cys]... | |
| ENST00000569012.5:c.[428T>A;431A>G;434C>G;458T>G] | ENSP00000455304.1:p.[Ile143Asn;Asn144Ser;Ser145Cys;Phe153Cys]... | |
| ENST00000570146.3:c.[82T>A;85A>G;88C>G;112T>G] | ||
| ENST00000570177.6:c.[428T>A;431A>G;434C>G;458T>G] | ENSP00000454647.1:p.[Ile143Asn;Asn144Ser;Ser145Cys;Phe153Cys]... | |
| ENST00000570287.6:c.[338T>A;341A>G;344C>G;368T>G] | ENSP00000455763.1:p.[Ile113Asn;Asn114Ser;Ser115Cys;Phe123Cys]... | |
| ENST00000616053.4:c.[566T>A;569A>G;572C>G;596T>G] | ENSP00000478549.1:p.[Ile189Asn;Asn190Ser;Ser191Cys;Phe199Cys]... | |
| ENST00000625849.2:n.[678T>A;681A>G;684C>G;708T>G] | ||
| ENST00000626584.2:c.[170T>A;173A>G;176C>G;200T>G] | ENSP00000486072.1:p.[Ile57Asn;Asn58Ser;Ser59Cys;Phe67Cys] | |
| ENST00000627136.2:n.[524-8402T>A;524-8399A>G;524-8396C>G;524-8372T>G] | ||
| ENST00000628078.2:c.[428T>A;431A>G;434C>G;458T>G] | ENSP00000486909.1:p.[Ile143Asn;Asn144Ser;Ser145Cys;Phe153Cys]... | |
| ENST00000628636.2:c.[428T>A;431A>G;434C>G;458T>G] | ENSP00000485755.1:p.[Ile143Asn;Asn144Ser;Ser145Cys;Phe153Cys]... | |
| ENST00000628689.2:c.[204T>A;207A>G;210C>G;234T>G] | ENSP00000487010.1:p.[His68Gln;Gln69=;Phe70Leu;Phe78Leu] | |
| ENST00000629343.2:c.[428T>A;431A>G;434C>G;458T>G] | ENSP00000486148.1:p.[Ile143Asn;Asn144Ser;Ser145Cys;Phe153Cys]... | |
| ENST00000629387.2:c.[818T>A;821A>G;824C>G;848T>G] | ENSP00000486670.1:p.[Ile273Asn;Asn274Ser;Ser275Cys;Phe283Cys]... | |
| ENST00000630268.2:c.[428T>A;431A>G;434C>G;458T>G] | ENSP00000486405.1:p.[Ile143Asn;Asn144Ser;Ser145Cys;Phe153Cys]... | |
| ENST00000630720.2:c.[338T>A;341A>G;344C>G;368T>G] | ENSP00000487218.1:p.[Ile113Asn;Asn114Ser;Ser115Cys;Phe123Cys]... | |
| ENST00000630828.2:c.[608T>A;611A>G;614C>G;638T>G] | ENSP00000486974.1:p.[Ile203Asn;Asn204Ser;Ser205Cys;Phe213Cys]... | |
| NM_001083962.1:c.[818T>A;821A>G;824C>G;848T>G] | NP_001077431.1:p.[Ile273Asn;Asn274Ser;Ser275Cys;Phe283Cys] | |
| NM_001243226.2:c.[1124T>A;1127A>G;1130C>G;1154T>G] | NP_001230155.2:p.[Ile375Asn;Asn376Ser;Ser377Cys;Phe385Cys] | |
| NM_001243227.1:c.[746T>A;749A>G;752C>G;776T>G] | NP_001230156.1:p.[Ile249Asn;Asn250Ser;Ser251Cys;Phe259Cys] | |
| NM_001243228.1:c.[836T>A;839A>G;842C>G;866T>G] | NP_001230157.1:p.[Ile279Asn;Asn280Ser;Ser281Cys;Phe289Cys] | |
| NM_001243230.1:c.[812T>A;815A>G;818C>G;842T>G] | NP_001230159.1:p.[Ile271Asn;Asn272Ser;Ser273Cys;Phe281Cys] | |
| NM_001243231.1:c.[692T>A;695A>G;698C>G;722T>G] | NP_001230160.1:p.[Ile231Asn;Asn232Ser;Ser233Cys;Phe241Cys] | |
| NM_001243232.1:c.[605T>A;608A>G;611C>G;635T>G] | NP_001230161.1:p.[Ile202Asn;Asn203Ser;Ser204Cys;Phe212Cys] | |
| NM_001243233.1:c.[428T>A;431A>G;434C>G;458T>G] | NP_001230162.1:p.[Ile143Asn;Asn144Ser;Ser145Cys;Phe153Cys] | |
| NM_001243234.1:c.[338T>A;341A>G;344C>G;368T>G] | NP_001230163.1:p.[Ile113Asn;Asn114Ser;Ser115Cys;Phe123Cys] | |
| NM_001243235.1:c.[338T>A;341A>G;344C>G;368T>G] | NP_001230164.1:p.[Ile113Asn;Asn114Ser;Ser115Cys;Phe123Cys] | |
| NM_001243236.1:c.[338T>A;341A>G;344C>G;368T>G] | NP_001230165.1:p.[Ile113Asn;Asn114Ser;Ser115Cys;Phe123Cys] | |
| NM_001306207.1:c.[746T>A;749A>G;752C>G;776T>G] | NP_001293136.1:p.[Ile249Asn;Asn250Ser;Ser251Cys;Phe259Cys] | |
| NM_001306208.1:c.[605T>A;608A>G;611C>G;635T>G] | NP_001293137.1:p.[Ile202Asn;Asn203Ser;Ser204Cys;Phe212Cys] | |
| NM_003199.2:c.[818T>A;821A>G;824C>G;848T>G] | NP_003190.1:p.[Ile273Asn;Asn274Ser;Ser275Cys;Phe283Cys] | |
| XM_005266739.3:c.[746T>A;749A>G;752C>G;776T>G] | XP_005266796.2:p.[Ile249Asn;Asn250Ser;Ser251Cys;Phe259Cys] | |
| XM_005266741.3:c.[815T>A;818A>G;821C>G;845T>G] | XP_005266798.1:p.[Ile272Asn;Asn273Ser;Ser274Cys;Phe282Cys] | |
| XM_005266743.3:c.[746T>A;749A>G;752C>G;776T>G] | XP_005266800.1:p.[Ile249Asn;Asn250Ser;Ser251Cys;Phe259Cys] | |
| XM_005266744.3:c.[746T>A;749A>G;752C>G;776T>G] | XP_005266801.1:p.[Ile249Asn;Asn250Ser;Ser251Cys;Phe259Cys] | |
| XM_005266745.3:c.[743T>A;746A>G;749C>G;773T>G] | XP_005266802.1:p.[Ile248Asn;Asn249Ser;Ser250Cys;Phe258Cys] | |
| XM_005266747.3:c.[692T>A;695A>G;698C>G;722T>G] | XP_005266804.1:p.[Ile231Asn;Asn232Ser;Ser233Cys;Phe241Cys] | |
| XM_005266749.3:c.[608T>A;611A>G;614C>G;638T>G] | XP_005266806.1:p.[Ile203Asn;Asn204Ser;Ser205Cys;Phe213Cys] | |
| XM_005266752.3:c.[428T>A;431A>G;434C>G;458T>G] | XP_005266809.1:p.[Ile143Asn;Asn144Ser;Ser145Cys;Phe153Cys] | |
| XM_005266754.3:c.[428T>A;431A>G;434C>G;458T>G] | XP_005266811.1:p.[Ile143Asn;Asn144Ser;Ser145Cys;Phe153Cys] | |
| XM_005266755.3:c.[428T>A;431A>G;434C>G;458T>G] | XP_005266812.1:p.[Ile143Asn;Asn144Ser;Ser145Cys;Phe153Cys] | |
| XM_005266761.3:c.[338T>A;341A>G;344C>G;368T>G] | XP_005266818.1:p.[Ile113Asn;Asn114Ser;Ser115Cys;Phe123Cys] | |
| XM_006722536.2:c.[818T>A;821A>G;824C>G;848T>G] | XP_006722599.1:p.[Ile273Asn;Asn274Ser;Ser275Cys;Phe283Cys] | |
| XM_006722537.2:c.[818T>A;821A>G;824C>G;848T>G] | XP_006722600.1:p.[Ile273Asn;Asn274Ser;Ser275Cys;Phe283Cys] | |
| XM_006722538.2:c.[743T>A;746A>G;749C>G;773T>G] | XP_006722601.1:p.[Ile248Asn;Asn249Ser;Ser250Cys;Phe258Cys] | |
| XM_006722539.2:c.[428T>A;431A>G;434C>G;458T>G] | XP_006722602.1:p.[Ile143Asn;Asn144Ser;Ser145Cys;Phe153Cys] | |
| XM_006722540.2:c.[428T>A;431A>G;434C>G;458T>G] | XP_006722603.1:p.[Ile143Asn;Asn144Ser;Ser145Cys;Phe153Cys] | |
| XM_011526154.1:c.[1121T>A;1124A>G;1127C>G;1151T>G] | XP_011524456.1:p.[Ile374Asn;Asn375Ser;Ser376Cys;Phe384Cys] | |
| XM_011526155.1:c.[1124T>A;1127A>G;1130C>G;1154T>G] | XP_011524457.1:p.[Ile375Asn;Asn376Ser;Ser377Cys;Phe385Cys] | |
| XM_011526156.1:c.[1124T>A;1127A>G;1130C>G;1154T>G] | XP_011524458.1:p.[Ile375Asn;Asn376Ser;Ser377Cys;Phe385Cys] | |
| XM_011526157.1:c.[1121T>A;1124A>G;1127C>G;1151T>G] | XP_011524459.1:p.[Ile374Asn;Asn375Ser;Ser376Cys;Phe384Cys] | |
| XM_011526158.1:c.[812T>A;815A>G;818C>G;842T>G] | XP_011524460.1:p.[Ile271Asn;Asn272Ser;Ser273Cys;Phe281Cys] | |
| XM_011526159.1:c.[428T>A;431A>G;434C>G;458T>G] | XP_011524461.1:p.[Ile143Asn;Asn144Ser;Ser145Cys;Phe153Cys] | |
| XM_011526160.1:c.[428T>A;431A>G;434C>G;458T>G] | XP_011524462.1:p.[Ile143Asn;Asn144Ser;Ser145Cys;Phe153Cys] | |
| XM_011526161.1:c.[428T>A;431A>G;434C>G;458T>G] | XP_011524463.1:p.[Ile143Asn;Asn144Ser;Ser145Cys;Phe153Cys] | |
| XM_011526162.1:c.[428T>A;431A>G;434C>G;458T>G] | XP_011524464.1:p.[Ile143Asn;Asn144Ser;Ser145Cys;Phe153Cys] | |
| XM_011526163.1:c.[428T>A;431A>G;434C>G;458T>G] | XP_011524465.1:p.[Ile143Asn;Asn144Ser;Ser145Cys;Phe153Cys] | |
| XM_011526164.1:c.[428T>A;431A>G;434C>G;458T>G] | XP_011524466.1:p.[Ile143Asn;Asn144Ser;Ser145Cys;Phe153Cys] | |
| NM_001330604.2:c.[818T>A;821A>G;824C>G;848T>G] | NP_001317533.1:p.[Ile273Asn;Asn274Ser;Ser275Cys;Phe283Cys] | |
| NM_001330605.2:c.[428T>A;431A>G;434C>G;458T>G] | NP_001317534.1:p.[Ile143Asn;Asn144Ser;Ser145Cys;Phe153Cys] | |
| NM_001348211.1:c.[692T>A;695A>G;698C>G;722T>G] | NP_001335140.1:p.[Ile231Asn;Asn232Ser;Ser233Cys;Phe241Cys] | |
| NM_001348212.1:c.[428T>A;431A>G;434C>G;458T>G] | NP_001335141.1:p.[Ile143Asn;Asn144Ser;Ser145Cys;Phe153Cys] | |
| NM_001348213.1:c.[428T>A;431A>G;434C>G;458T>G] | NP_001335142.1:p.[Ile143Asn;Asn144Ser;Ser145Cys;Phe153Cys] | |
| NM_001348214.1:c.[338T>A;341A>G;344C>G;368T>G] | NP_001335143.1:p.[Ile113Asn;Asn114Ser;Ser115Cys;Phe123Cys] | |
| NM_001348215.1:c.[170T>A;173A>G;176C>G;200T>G] | NP_001335144.1:p.[Ile57Asn;Asn58Ser;Ser59Cys;Phe67Cys] | |
| NM_001348216.1:c.[338T>A;341A>G;344C>G;368T>G] | NP_001335145.1:p.[Ile113Asn;Asn114Ser;Ser115Cys;Phe123Cys] | |
| NM_001348217.1:c.[746T>A;749A>G;752C>G;776T>G] | NP_001335146.1:p.[Ile249Asn;Asn250Ser;Ser251Cys;Phe259Cys] | |
| NM_001348218.1:c.[746T>A;749A>G;752C>G;776T>G] | NP_001335147.1:p.[Ile249Asn;Asn250Ser;Ser251Cys;Phe259Cys] | |
| NM_001348219.1:c.[746T>A;749A>G;752C>G;776T>G] | NP_001335148.1:p.[Ile249Asn;Asn250Ser;Ser251Cys;Phe259Cys] | |
| NM_001348220.1:c.[743T>A;746A>G;749C>G;773T>G] | NP_001335149.1:p.[Ile248Asn;Asn249Ser;Ser250Cys;Phe258Cys] | |
| XM_005266739.4:c.[746T>A;749A>G;752C>G;776T>G] | XP_005266796.2:p.[Ile249Asn;Asn250Ser;Ser251Cys;Phe259Cys] | |
| XM_005266741.4:c.[815T>A;818A>G;821C>G;845T>G] | XP_005266798.1:p.[Ile272Asn;Asn273Ser;Ser274Cys;Phe282Cys] | |
| XM_005266745.4:c.[743T>A;746A>G;749C>G;773T>G] | XP_005266802.1:p.[Ile248Asn;Asn249Ser;Ser250Cys;Phe258Cys] | |
| XM_005266749.4:c.[608T>A;611A>G;614C>G;638T>G] | XP_005266806.1:p.[Ile203Asn;Asn204Ser;Ser205Cys;Phe213Cys] | |
| XM_005266752.5:c.[428T>A;431A>G;434C>G;458T>G] | XP_005266809.1:p.[Ile143Asn;Asn144Ser;Ser145Cys;Phe153Cys] | |
| XM_005266755.5:c.[428T>A;431A>G;434C>G;458T>G] | XP_005266812.1:p.[Ile143Asn;Asn144Ser;Ser145Cys;Phe153Cys] | |
| XM_005266761.4:c.[338T>A;341A>G;344C>G;368T>G] | XP_005266818.1:p.[Ile113Asn;Asn114Ser;Ser115Cys;Phe123Cys] | |
| XM_006722536.3:c.[818T>A;821A>G;824C>G;848T>G] | XP_006722599.1:p.[Ile273Asn;Asn274Ser;Ser275Cys;Phe283Cys] | |
| XM_006722537.3:c.[818T>A;821A>G;824C>G;848T>G] | XP_006722600.1:p.[Ile273Asn;Asn274Ser;Ser275Cys;Phe283Cys] | |
| XM_006722538.3:c.[743T>A;746A>G;749C>G;773T>G] | XP_006722601.1:p.[Ile248Asn;Asn249Ser;Ser250Cys;Phe258Cys] | |
| XM_017025934.2:c.[743T>A;746A>G;749C>G;773T>G] | XP_016881423.1:p.[Ile248Asn;Asn249Ser;Ser250Cys;Phe258Cys] | |
| XM_017025935.2:c.[746T>A;749A>G;752C>G;776T>G] | XP_016881424.1:p.[Ile249Asn;Asn250Ser;Ser251Cys;Phe259Cys] | |
| XM_017025936.2:c.[746T>A;749A>G;752C>G;776T>G] | XP_016881425.1:p.[Ile249Asn;Asn250Ser;Ser251Cys;Phe259Cys] | |
| XM_017025937.2:c.[743T>A;746A>G;749C>G;773T>G] | XP_016881426.1:p.[Ile248Asn;Asn249Ser;Ser250Cys;Phe258Cys] | |
| XM_017025938.2:c.[815T>A;818A>G;821C>G;845T>G] | XP_016881427.1:p.[Ile272Asn;Asn273Ser;Ser274Cys;Phe282Cys] | |
| XM_017025940.2:c.[818T>A;821A>G;824C>G;848T>G] | XP_016881429.1:p.[Ile273Asn;Asn274Ser;Ser275Cys;Phe283Cys] | |
| XM_017025941.2:c.[818T>A;821A>G;824C>G;848T>G] | XP_016881430.1:p.[Ile273Asn;Asn274Ser;Ser275Cys;Phe283Cys] | |
| XM_017025942.2:c.[815T>A;818A>G;821C>G;845T>G] | XP_016881431.1:p.[Ile272Asn;Asn273Ser;Ser274Cys;Phe282Cys] | |
| XM_017025943.2:c.[818T>A;821A>G;824C>G;848T>G] | XP_016881432.1:p.[Ile273Asn;Asn274Ser;Ser275Cys;Phe283Cys] | |
| XM_017025944.2:c.[743T>A;746A>G;749C>G;773T>G] | XP_016881433.1:p.[Ile248Asn;Asn249Ser;Ser250Cys;Phe258Cys] | |
| XM_017025945.2:c.[746T>A;749A>G;752C>G;776T>G] | XP_016881434.1:p.[Ile249Asn;Asn250Ser;Ser251Cys;Phe259Cys] | |
| XM_017025946.2:c.[746T>A;749A>G;752C>G;776T>G] | XP_016881435.1:p.[Ile249Asn;Asn250Ser;Ser251Cys;Phe259Cys] | |
| XM_017025948.2:c.[743T>A;746A>G;749C>G;773T>G] | XP_016881437.1:p.[Ile248Asn;Asn249Ser;Ser250Cys;Phe258Cys] | |
| XM_017025950.2:c.[743T>A;746A>G;749C>G;773T>G] | XP_016881439.1:p.[Ile248Asn;Asn249Ser;Ser250Cys;Phe258Cys] | |
| XM_017025951.2:c.[692T>A;695A>G;698C>G;722T>G] | XP_016881440.1:p.[Ile231Asn;Asn232Ser;Ser233Cys;Phe241Cys] | |
| XM_017025952.2:c.[605T>A;608A>G;611C>G;635T>G] | XP_016881441.1:p.[Ile202Asn;Asn203Ser;Ser204Cys;Phe212Cys] | |
| XM_017025953.2:c.[608T>A;611A>G;614C>G;638T>G] | XP_016881442.1:p.[Ile203Asn;Asn204Ser;Ser205Cys;Phe213Cys] | |
| XM_017025954.2:c.[428T>A;431A>G;434C>G;458T>G] | XP_016881443.1:p.[Ile143Asn;Asn144Ser;Ser145Cys;Phe153Cys] | |
| XM_017025956.2:c.[428T>A;431A>G;434C>G;458T>G] | XP_016881445.1:p.[Ile143Asn;Asn144Ser;Ser145Cys;Phe153Cys] | |
| XM_024451240.1:c.[746T>A;749A>G;752C>G;776T>G] | XP_024307008.1:p.[Ile249Asn;Asn250Ser;Ser251Cys;Phe259Cys] | |
| XM_024451241.1:c.[581T>A;584A>G;587C>G;611T>G] | XP_024307009.1:p.[Ile194Asn;Asn195Ser;Ser196Cys;Phe204Cys] | |
| NM_001083962.2:c.[818T>A;821A>G;824C>G;848T>G] MANE Select | NP_001077431.1:p.[Ile273Asn;Asn274Ser;Ser275Cys;Phe283Cys] | |
| NM_001243226.3:c.[1124T>A;1127A>G;1130C>G;1154T>G] | NP_001230155.2:p.[Ile375Asn;Asn376Ser;Ser377Cys;Phe385Cys] | |
| NM_001243227.2:c.[746T>A;749A>G;752C>G;776T>G] | NP_001230156.1:p.[Ile249Asn;Asn250Ser;Ser251Cys;Phe259Cys] | |
| NM_001243228.2:c.[836T>A;839A>G;842C>G;866T>G] | NP_001230157.1:p.[Ile279Asn;Asn280Ser;Ser281Cys;Phe289Cys] | |
| NM_001243231.2:c.[692T>A;695A>G;698C>G;722T>G] | NP_001230160.1:p.[Ile231Asn;Asn232Ser;Ser233Cys;Phe241Cys] | |
| NM_001243233.2:c.[428T>A;431A>G;434C>G;458T>G] | NP_001230162.1:p.[Ile143Asn;Asn144Ser;Ser145Cys;Phe153Cys] | |
| NM_001243234.2:c.[338T>A;341A>G;344C>G;368T>G] | NP_001230163.1:p.[Ile113Asn;Asn114Ser;Ser115Cys;Phe123Cys] | |
| NM_001243235.2:c.[338T>A;341A>G;344C>G;368T>G] | NP_001230164.1:p.[Ile113Asn;Asn114Ser;Ser115Cys;Phe123Cys] | |
| NM_001243236.2:c.[338T>A;341A>G;344C>G;368T>G] | NP_001230165.1:p.[Ile113Asn;Asn114Ser;Ser115Cys;Phe123Cys] | |
| NM_001330604.3:c.[818T>A;821A>G;824C>G;848T>G] | NP_001317533.1:p.[Ile273Asn;Asn274Ser;Ser275Cys;Phe283Cys] | |
| NM_001330605.3:c.[428T>A;431A>G;434C>G;458T>G] | NP_001317534.1:p.[Ile143Asn;Asn144Ser;Ser145Cys;Phe153Cys] | |
| NM_001348211.2:c.[692T>A;695A>G;698C>G;722T>G] | NP_001335140.1:p.[Ile231Asn;Asn232Ser;Ser233Cys;Phe241Cys] | |
| NM_001348212.2:c.[428T>A;431A>G;434C>G;458T>G] | NP_001335141.1:p.[Ile143Asn;Asn144Ser;Ser145Cys;Phe153Cys] | |
| NM_001348213.2:c.[428T>A;431A>G;434C>G;458T>G] | NP_001335142.1:p.[Ile143Asn;Asn144Ser;Ser145Cys;Phe153Cys] | |
| NM_001348214.2:c.[338T>A;341A>G;344C>G;368T>G] | NP_001335143.1:p.[Ile113Asn;Asn114Ser;Ser115Cys;Phe123Cys] | |
| NM_001348215.2:c.[170T>A;173A>G;176C>G;200T>G] | NP_001335144.1:p.[Ile57Asn;Asn58Ser;Ser59Cys;Phe67Cys] | |
| NM_001348216.2:c.[338T>A;341A>G;344C>G;368T>G] | NP_001335145.1:p.[Ile113Asn;Asn114Ser;Ser115Cys;Phe123Cys] | |
| NM_001348218.2:c.[746T>A;749A>G;752C>G;776T>G] | NP_001335147.1:p.[Ile249Asn;Asn250Ser;Ser251Cys;Phe259Cys] | |
| NM_001348219.2:c.[746T>A;749A>G;752C>G;776T>G] | NP_001335148.1:p.[Ile249Asn;Asn250Ser;Ser251Cys;Phe259Cys] | |
| NM_001369567.1:c.[818T>A;821A>G;824C>G;848T>G] | NP_001356496.1:p.[Ile273Asn;Asn274Ser;Ser275Cys;Phe283Cys] | |
| NM_001369568.1:c.[818T>A;821A>G;824C>G;848T>G] | NP_001356497.1:p.[Ile273Asn;Asn274Ser;Ser275Cys;Phe283Cys] | |
| NM_001369569.1:c.[815T>A;818A>G;821C>G;845T>G] | NP_001356498.1:p.[Ile272Asn;Asn273Ser;Ser274Cys;Phe282Cys] | |
| NM_001369570.1:c.[815T>A;818A>G;821C>G;845T>G] | NP_001356499.1:p.[Ile272Asn;Asn273Ser;Ser274Cys;Phe282Cys] | |
| NM_001369571.1:c.[818T>A;821A>G;824C>G;848T>G] | NP_001356500.1:p.[Ile273Asn;Asn274Ser;Ser275Cys;Phe283Cys] | |
| NM_001369572.1:c.[818T>A;821A>G;824C>G;848T>G] | NP_001356501.1:p.[Ile273Asn;Asn274Ser;Ser275Cys;Phe283Cys] | |
| NM_001369573.1:c.[815T>A;818A>G;821C>G;845T>G] | NP_001356502.1:p.[Ile272Asn;Asn273Ser;Ser274Cys;Phe282Cys] | |
| NM_001369574.1:c.[818T>A;821A>G;824C>G;848T>G] | NP_001356503.1:p.[Ile273Asn;Asn274Ser;Ser275Cys;Phe283Cys] | |
| NM_001369575.1:c.[746T>A;749A>G;752C>G;776T>G] | NP_001356504.1:p.[Ile249Asn;Asn250Ser;Ser251Cys;Phe259Cys] | |
| NM_001369576.1:c.[743T>A;746A>G;749C>G;773T>G] | NP_001356505.1:p.[Ile248Asn;Asn249Ser;Ser250Cys;Phe258Cys] | |
| NM_001369577.1:c.[746T>A;749A>G;752C>G;776T>G] | NP_001356506.1:p.[Ile249Asn;Asn250Ser;Ser251Cys;Phe259Cys] | |
| NM_001369578.1:c.[743T>A;746A>G;749C>G;773T>G] | NP_001356507.1:p.[Ile248Asn;Asn249Ser;Ser250Cys;Phe258Cys] | |
| NM_001369579.1:c.[746T>A;749A>G;752C>G;776T>G] | NP_001356508.1:p.[Ile249Asn;Asn250Ser;Ser251Cys;Phe259Cys] | |
| NM_001369580.1:c.[746T>A;749A>G;752C>G;776T>G] | NP_001356509.1:p.[Ile249Asn;Asn250Ser;Ser251Cys;Phe259Cys] | |
| NM_001369581.1:c.[743T>A;746A>G;749C>G;773T>G] | NP_001356510.1:p.[Ile248Asn;Asn249Ser;Ser250Cys;Phe258Cys] | |
| NM_001369582.1:c.[746T>A;749A>G;752C>G;776T>G] | NP_001356511.1:p.[Ile249Asn;Asn250Ser;Ser251Cys;Phe259Cys] | |
| NM_001369583.1:c.[746T>A;749A>G;752C>G;776T>G] | NP_001356512.1:p.[Ile249Asn;Asn250Ser;Ser251Cys;Phe259Cys] | |
| NM_001369584.1:c.[743T>A;746A>G;749C>G;773T>G] | NP_001356513.1:p.[Ile248Asn;Asn249Ser;Ser250Cys;Phe258Cys] | |
| NM_001369585.1:c.[743T>A;746A>G;749C>G;773T>G] | NP_001356514.1:p.[Ile248Asn;Asn249Ser;Ser250Cys;Phe258Cys] | |
| NM_001369586.1:c.[746T>A;749A>G;752C>G;776T>G] | NP_001356515.1:p.[Ile249Asn;Asn250Ser;Ser251Cys;Phe259Cys] | |
| NM_003199.3:c.[818T>A;821A>G;824C>G;848T>G] | NP_003190.1:p.[Ile273Asn;Asn274Ser;Ser275Cys;Phe283Cys] | |
| NM_001243230.2:c.[812T>A;815A>G;818C>G;842T>G] | NP_001230159.1:p.[Ile271Asn;Asn272Ser;Ser273Cys;Phe281Cys] |