Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.[33080680C>G;33080682T>G;33080684T>A;33080689G>T;33080690G>T;33080765C>T;33080822C>A;33080825C>A;33080863A>G;33080884A>G;33080886G>A;33080909G>A;33080912G>A;33080914C>G;33080917A>G;33084959G>A;33084966T>C;33084991T>C;33085026G>A;33085173T>C;33085181C>T;33085209T>C;33085832G>A] , CM000668.2:g.[33080680C>G;33080682T>G;33080684T>A;33080689G>T;33080690G>T;33080765C>T;33080822C>A;33080825C>A;33080863A>G;33080884A>G;33080886G>A;33080909G>A;33080912G>A;33080914C>G;33080917A>G;33084959G>A;33084966T>C;33084991T>C;33085026G>A;33085173T>C;33085181C>T;33085209T>C;33085832G>A] | GRCh38 |
| NC_000006.11:g.[33048457C>G;33048459T>G;33048461T>A;33048466G>T;33048467G>T;33048542C>T;33048599C>A;33048602C>A;33048640A>G;33048661A>G;33048663G>A;33048686G>A;33048689G>A;33048691C>G;33048694A>G;33052736G>A;33052743T>C;33052768T>C;33052803G>A;33052950T>C;33052958C>T;33052986T>C;33053609G>A] , CM000668.1:g.[33048457C>G;33048459T>G;33048461T>A;33048466G>T;33048467G>T;33048542C>T;33048599C>A;33048602C>A;33048640A>G;33048661A>G;33048663G>A;33048686G>A;33048689G>A;33048691C>G;33048694A>G;33052736G>A;33052743T>C;33052768T>C;33052803G>A;33052950T>C;33052958C>T;33052986T>C;33053609G>A] | GRCh37 |
| NC_000006.10:g.[33156435C>G;33156437T>G;33156439T>A;33156444G>T;33156445G>T;33156520C>T;33156577C>A;33156580C>A;33156618A>G;33156639A>G;33156641G>A;33156664G>A;33156667G>A;33156669C>G;33156672A>G;33160714G>A;33160721T>C;33160746T>C;33160781G>A;33160928T>C;33160936C>T;33160964T>C;33161587G>A] | NCBI36 |
| NG_033242.1:g.[9755C>G;9757T>G;9759T>A;9764G>T;9765G>T;9840C>T;9897C>A;9900C>A;9938A>G;9959A>G;9961G>A;9984G>A;9987G>A;9989C>G;9992A>G;14034G>A;14041T>C;14066T>C;14101G>A;14248T>C;14256C>T;14284T>C;14907G>A] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000418931.7:c.[109C>G;111T>G;113T>A;118G>T;119G>T;194C>T;251C>A;254C>A;292A>G;313A>G;315G>A;338G>A;341G>A;343C>G;346A>G;374G>A;381T>C;406T>C;441G>A;588T>C;596C>T;624T>C;700G>A] MANE Select | ENSP00000408146.2:p.[Leu37Gly;Phe38Tyr;Gly40Leu;Ala65Val;Ala8... | |
| ENST00000416804.1:c.[9C>G;11T>G;13T>A;18G>T;19G>T;94C>T;151C>A;154C>A;192A>G;213A>G;215G>A;238G>A;241G>A;243C>G;246A>G;274G>A;281T>C;306T>C;341G>A;488T>C;496C>T;524T>C;600G>A] | ||
| ENST00000418931.6:c.[109C>G;111T>G;113T>A;118G>T;119G>T;194C>T;251C>A;254C>A;292A>G;313A>G;315G>A;338G>A;341G>A;343C>G;346A>G;374G>A;381T>C;406T>C;441G>A;588T>C;596C>T;624T>C;700G>A] | ENSP00000408146.2:p.[Leu37Val;Phe38Asn;Gly40Leu;Ala65Val;Ala8... | |
| ENST00000428835.5:c.[49-9C>G;49-7T>G;49-5T>A;49G>T;50G>T;125C>T;182C>A;185C>A;223A>G;244A>G;246G>A;269G>A;272G>A;274C>G;277A>G;305G>A;312T>C;337T>C;372G>A;519T>C;527C>T;555T>C;631G>A] | ENSP00000412654.1:p.Gly17Ter | |
| NM_002121.5:c.[109C>G;111T>G;113T>A;118G>T;119G>T;194C>T;251C>A;254C>A;292A>G;313A>G;315G>A;338G>A;341G>A;343C>G;346A>G;374G>A;381T>C;406T>C;441G>A;588T>C;596C>T;624T>C;700G>A] | NP_002112.3:p.[Leu37Val;Phe38Asn;Gly40Leu;Ala65Val;Ala84Asp;A... | |
| XM_006715078.2:c.[-204C>G;-202T>G;-200T>A;-195G>T;-194G>T;-119C>T;-62C>A;-59C>A;-21A>G;1A>G;3G>A;26G>A;29G>A;31C>G;34A>G;62G>A;69T>C;94T>C;129G>A;276T>C;284C>T;312T>C;388G>A] | XP_006715141.1:p.[Met1Val;Met1Ile;Gly9Asp;Gly10_Pro11delinsGl... | |
| NM_002121.6:c.[109C>G;111T>G;113T>A;118G>T;119G>T;194C>T;251C>A;254C>A;292A>G;313A>G;315G>A;338G>A;341G>A;343C>G;346A>G;374G>A;381T>C;406T>C;441G>A;588T>C;596C>T;624T>C;700G>A] MANE Select | NP_002112.3:p.[Leu37Gly;Phe38Tyr;Gly40Leu;Ala65Val;Ala84Asp;A... |