ClinVar

NM_001385682.1(MAP4):c.931G>A (p.Glu311Lys)

Gene:

MAP4:microtubule associated protein 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p21.31

Genomic location:

• Chr3: 47916896 (on Assembly GRCh38)
• Chr3: 47958386 (on Assembly GRCh37)

Preferred name:

NM_001385682.1(MAP4):c.931G>A (p.Glu311Lys)

HGVS:

• NC_000003.12:g.47916896C>T
• NG_052840.1:g.177384G>A
• NM_001134364.2:c.931G>A
• NM_001384675.1:c.808G>A
• NM_001384676.1:c.931G>A
• NM_001384677.1:c.931G>A
• NM_001384678.1:c.967G>A
• NM_001384679.1:c.931G>A
• NM_001384680.1:c.625G>A
• NM_001384681.1:c.808G>A
• NM_001384707.1:c.808G>A
• NM_001384729.1:c.931G>A
• NM_001384730.1:c.862G>A
• NM_001384731.1:c.982G>A
• NM_001384733.1:c.931G>A
• NM_001384734.1:c.931G>A
• NM_001384735.1:c.931G>A
• NM_001384736.1:c.982G>A
• NM_001384737.1:c.931G>A
• NM_001384738.1:c.967G>A
• NM_001384744.1:c.859G>A
• NM_001384745.1:c.967G>A
• NM_001384746.1:c.739G>A
• NM_001384748.1:c.967G>A
• NM_001384751.1:c.931G>A
• NM_001384752.1:c.931G>A
• NM_001384753.1:c.739G>A
• NM_001384754.1:c.931G>A
• NM_001384755.1:c.808G>A
• NM_001384756.1:c.931G>A
• NM_001384757.1:c.739G>A
• NM_001384758.1:c.817G>A
• NM_001384759.1:c.808G>A
• NM_001384760.1:c.808G>A
• NM_001384761.1:c.931G>A
• NM_001384762.1:c.652+1823G>A
• NM_001384774.1:c.931G>A
• NM_001384776.1:c.817G>A
• NM_001384777.1:c.862G>A
• NM_001384778.1:c.653-355G>A
• NM_001384779.1:c.931G>A
• NM_001384780.1:c.862G>A
• NM_001384781.1:c.931G>A
• NM_001384782.1:c.862G>A
• NM_001384783.1:c.862G>A
• NM_001384784.1:c.652+1823G>A
• NM_001384785.1:c.931G>A
• NM_001384786.1:c.862G>A
• NM_001384787.1:c.862G>A
• NM_001384788.1:c.982G>A
• NM_001384789.1:c.859G>A
• NM_001384790.1:c.982G>A
• NM_001384791.1:c.859G>A
• NM_001384792.1:c.982G>A
• NM_001384793.1:c.859G>A
• NM_001384794.1:c.982G>A
• NM_001384795.1:c.1018G>A
• NM_001384796.1:c.982G>A
• NM_001384797.1:c.859G>A
• NM_001384798.1:c.931G>A
• NM_001384800.1:c.931G>A
• NM_001384802.1:c.529+4869G>A
• NM_001384803.1:c.694G>A
• NM_001384804.1:c.808G>A
• NM_001384805.1:c.808G>A
• NM_001384806.1:c.808G>A
• NM_001384807.1:c.694G>A
• NM_001384808.1:c.529+4869G>A
• NM_001384809.1:c.931G>A
• NM_001384810.1:c.931G>A
• NM_001384811.1:c.862G>A
• NM_001384812.1:c.529+4869G>A
• NM_001384813.1:c.621+1854G>A
• NM_001384814.1:c.931G>A
• NM_001384815.1:c.529+4869G>A
• NM_001384816.1:c.862G>A
• NM_001384817.1:c.460+4869G>A
• NM_001384819.1:c.931G>A
• NM_001384820.1:c.931G>A
• NM_001384824.1:c.931G>A
• NM_001384825.1:c.817G>A
• NM_001384826.1:c.808G>A
• NM_001384827.1:c.931G>A
• NM_001384828.1:c.862G>A
• NM_001384831.1:c.931G>A
• NM_001384832.1:c.817G>A
• NM_001384834.1:c.841G>A
• NM_001384835.1:c.529+4869G>A
• NM_001384836.1:c.808G>A
• NM_001384837.1:c.808G>A
• NM_001384838.1:c.931G>A
• NM_001384839.1:c.610G>A
• NM_001384840.1:c.931G>A
• NM_001384841.1:c.817G>A
• NM_001384842.1:c.694G>A
• NM_001384843.1:c.694G>A
• NM_001384844.1:c.931G>A
• NM_001384845.1:c.610G>A
• NM_001384846.1:c.931G>A
• NM_001384847.1:c.931G>A
• NM_001384848.1:c.931G>A
• NM_001384849.1:c.892G>A
• NM_001384850.1:c.808G>A
• NM_001384851.1:c.817G>A
• NM_001384853.1:c.808G>A
• NM_001384856.1:c.653-355G>A
• NM_001384857.1:c.862G>A
• NM_001384859.1:c.853G>A
• NM_001384861.1:c.931G>A
• NM_001384862.1:c.487G>A
• NM_001384863.1:c.1015G>A
• NM_001384864.1:c.739G>A
• NM_001384866.1:c.808G>A
• NM_001384867.1:c.610G>A
• NM_001384868.1:c.808G>A
• NM_001384869.1:c.862G>A
• NM_001384870.1:c.931G>A
• NM_001384871.1:c.931G>A
• NM_001384872.1:c.967G>A
• NM_001384873.1:c.853G>A
• NM_001384874.1:c.841G>A
• NM_001384875.1:c.967G>A
• NM_001384876.1:c.817G>A
• NM_001384877.1:c.530-1957G>A
• NM_001384878.1:c.931G>A
• NM_001384879.1:c.931G>A
• NM_001384892.1:c.841G>A
• NM_001384893.1:c.808G>A
• NM_001385664.1:c.862G>A
• NM_001385665.1:c.931G>A
• NM_001385675.1:c.967G>A
• NM_001385676.1:c.739G>A
• NM_001385677.1:c.931G>A
• NM_001385681.1:c.982G>A
• NM_001385682.1:c.931G>AMANE SELECT
• NM_001385684.1:c.931G>A
• NM_001385685.1:c.931G>A
• NM_001385686.1:c.982G>A
• NM_001385687.1:c.982G>A
• NM_001385688.1:c.982G>A
• NM_001385689.1:c.982G>A
• NM_002375.5:c.931G>A
• NM_030885.1:c.931G>A
• NP_001127836.1:p.Glu311Lys
• NP_001371604.1:p.Glu270Lys
• NP_001371605.1:p.Glu311Lys
• NP_001371606.1:p.Glu311Lys
• NP_001371607.1:p.Glu323Lys
• NP_001371608.1:p.Glu311Lys
• NP_001371609.1:p.Glu209Lys
• NP_001371610.1:p.Glu270Lys
• NP_001371636.1:p.Glu270Lys
• NP_001371658.1:p.Glu311Lys
• NP_001371659.1:p.Glu288Lys
• NP_001371660.1:p.Glu328Lys
• NP_001371662.1:p.Glu311Lys
• NP_001371663.1:p.Glu311Lys
• NP_001371664.1:p.Glu311Lys
• NP_001371665.1:p.Glu328Lys
• NP_001371666.1:p.Glu311Lys
• NP_001371667.1:p.Glu323Lys
• NP_001371673.1:p.Glu287Lys
• NP_001371674.1:p.Glu323Lys
• NP_001371675.1:p.Glu247Lys
• NP_001371677.1:p.Glu323Lys
• NP_001371680.1:p.Glu311Lys
• NP_001371681.1:p.Glu311Lys
• NP_001371682.1:p.Glu247Lys
• NP_001371683.1:p.Glu311Lys
• NP_001371684.1:p.Glu270Lys
• NP_001371685.1:p.Glu311Lys
• NP_001371686.1:p.Glu247Lys
• NP_001371687.1:p.Glu273Lys
• NP_001371688.1:p.Glu270Lys
• NP_001371689.1:p.Glu270Lys
• NP_001371690.1:p.Glu311Lys
• NP_001371703.1:p.Glu311Lys
• NP_001371705.1:p.Glu273Lys
• NP_001371706.1:p.Glu288Lys
• NP_001371708.1:p.Glu311Lys
• NP_001371709.1:p.Glu288Lys
• NP_001371710.1:p.Glu311Lys
• NP_001371711.1:p.Glu288Lys
• NP_001371712.1:p.Glu288Lys
• NP_001371714.1:p.Glu311Lys
• NP_001371715.1:p.Glu288Lys
• NP_001371716.1:p.Glu288Lys
• NP_001371717.1:p.Glu328Lys
• NP_001371718.1:p.Glu287Lys
• NP_001371719.1:p.Glu328Lys
• NP_001371720.1:p.Glu287Lys
• NP_001371721.1:p.Glu328Lys
• NP_001371722.1:p.Glu287Lys
• NP_001371723.1:p.Glu328Lys
• NP_001371724.1:p.Glu340Lys
• NP_001371725.1:p.Glu328Lys
• NP_001371726.1:p.Glu287Lys
• NP_001371727.1:p.Glu311Lys
• NP_001371729.1:p.Glu311Lys
• NP_001371732.1:p.Glu232Lys
• NP_001371733.1:p.Glu270Lys
• NP_001371734.1:p.Glu270Lys
• NP_001371735.1:p.Glu270Lys
• NP_001371736.1:p.Glu232Lys
• NP_001371738.1:p.Glu311Lys
• NP_001371739.1:p.Glu311Lys
• NP_001371740.1:p.Glu288Lys
• NP_001371743.1:p.Glu311Lys
• NP_001371745.1:p.Glu288Lys
• NP_001371748.1:p.Glu311Lys
• NP_001371749.1:p.Glu311Lys
• NP_001371753.1:p.Glu311Lys
• NP_001371754.1:p.Glu273Lys
• NP_001371755.1:p.Glu270Lys
• NP_001371756.1:p.Glu311Lys
• NP_001371757.1:p.Glu288Lys
• NP_001371760.1:p.Glu311Lys
• NP_001371761.1:p.Glu273Lys
• NP_001371763.1:p.Glu281Lys
• NP_001371765.1:p.Glu270Lys
• NP_001371766.1:p.Glu270Lys
• NP_001371767.1:p.Glu311Lys
• NP_001371768.1:p.Glu204Lys
• NP_001371769.1:p.Glu311Lys
• NP_001371770.1:p.Glu273Lys
• NP_001371771.1:p.Glu232Lys
• NP_001371772.1:p.Glu232Lys
• NP_001371773.1:p.Glu311Lys
• NP_001371774.1:p.Glu204Lys
• NP_001371775.1:p.Glu311Lys
• NP_001371776.1:p.Glu311Lys
• NP_001371777.1:p.Glu311Lys
• NP_001371778.1:p.Glu298Lys
• NP_001371779.1:p.Glu270Lys
• NP_001371780.1:p.Glu273Lys
• NP_001371782.1:p.Glu270Lys
• NP_001371786.1:p.Glu288Lys
• NP_001371788.1:p.Glu285Lys
• NP_001371790.1:p.Glu311Lys
• NP_001371791.1:p.Glu163Lys
• NP_001371792.1:p.Glu339Lys
• NP_001371793.1:p.Glu247Lys
• NP_001371795.1:p.Glu270Lys
• NP_001371796.1:p.Glu204Lys
• NP_001371797.1:p.Glu270Lys
• NP_001371798.1:p.Glu288Lys
• NP_001371799.1:p.Glu311Lys
• NP_001371800.1:p.Glu311Lys
• NP_001371801.1:p.Glu323Lys
• NP_001371802.1:p.Glu285Lys
• NP_001371803.1:p.Glu281Lys
• NP_001371804.1:p.Glu323Lys
• NP_001371805.1:p.Glu273Lys
• NP_001371807.1:p.Glu311Lys
• NP_001371808.1:p.Glu311Lys
• NP_001371821.1:p.Glu281Lys
• NP_001371822.1:p.Glu270Lys
• NP_001372593.1:p.Glu288Lys
• NP_001372594.1:p.Glu311Lys
• NP_001372604.1:p.Glu323Lys
• NP_001372605.1:p.Glu247Lys
• NP_001372606.1:p.Glu311Lys
• NP_001372610.1:p.Glu328Lys
• NP_001372611.1:p.Glu311Lys
• NP_001372613.1:p.Glu311Lys
• NP_001372614.1:p.Glu311Lys
• NP_001372615.1:p.Glu328Lys
• NP_001372616.1:p.Glu328Lys
• NP_001372617.1:p.Glu328Lys
• NP_001372618.1:p.Glu328Lys
• NP_002366.2:p.Glu311Lys
• NP_112147.1:p.Glu311Lys
• NC_000003.11:g.47958386C>T
• NM_002375.4:c.931G>A

This HGVS expression did not pass validation

Protein change:

E163K

Molecular consequence:

• NM_001384762.1:c.652+1823G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001384778.1:c.653-355G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001384784.1:c.652+1823G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001384802.1:c.529+4869G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001384808.1:c.529+4869G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001384812.1:c.529+4869G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001384813.1:c.621+1854G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001384815.1:c.529+4869G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001384817.1:c.460+4869G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001384835.1:c.529+4869G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001384856.1:c.653-355G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001384877.1:c.530-1957G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001134364.2:c.931G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384675.1:c.808G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384676.1:c.931G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384677.1:c.931G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384678.1:c.967G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384679.1:c.931G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384680.1:c.625G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384681.1:c.808G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384707.1:c.808G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384729.1:c.931G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384730.1:c.862G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384731.1:c.982G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384733.1:c.931G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384734.1:c.931G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384735.1:c.931G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384736.1:c.982G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384737.1:c.931G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384738.1:c.967G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384744.1:c.859G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384745.1:c.967G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384746.1:c.739G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384748.1:c.967G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384751.1:c.931G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384752.1:c.931G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384753.1:c.739G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384754.1:c.931G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384755.1:c.808G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384756.1:c.931G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384757.1:c.739G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384758.1:c.817G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384759.1:c.808G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384760.1:c.808G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384761.1:c.931G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384774.1:c.931G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384776.1:c.817G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384777.1:c.862G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384779.1:c.931G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384780.1:c.862G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384781.1:c.931G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384782.1:c.862G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384783.1:c.862G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384785.1:c.931G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384786.1:c.862G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384787.1:c.862G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384788.1:c.982G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384789.1:c.859G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384790.1:c.982G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384791.1:c.859G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384792.1:c.982G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384793.1:c.859G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384794.1:c.982G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384795.1:c.1018G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384796.1:c.982G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384797.1:c.859G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384798.1:c.931G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384800.1:c.931G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384803.1:c.694G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384804.1:c.808G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384805.1:c.808G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384806.1:c.808G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384807.1:c.694G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384809.1:c.931G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384810.1:c.931G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384811.1:c.862G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384814.1:c.931G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384816.1:c.862G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384819.1:c.931G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384820.1:c.931G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384824.1:c.931G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384825.1:c.817G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384826.1:c.808G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384827.1:c.931G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384828.1:c.862G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384831.1:c.931G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384832.1:c.817G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384834.1:c.841G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384836.1:c.808G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384837.1:c.808G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384838.1:c.931G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384839.1:c.610G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384840.1:c.931G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384841.1:c.817G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384842.1:c.694G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384843.1:c.694G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384844.1:c.931G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384845.1:c.610G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384846.1:c.931G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384847.1:c.931G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384848.1:c.931G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384849.1:c.892G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384850.1:c.808G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384851.1:c.817G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384853.1:c.808G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384857.1:c.862G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384859.1:c.853G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384861.1:c.931G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384862.1:c.487G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384863.1:c.1015G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384864.1:c.739G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384866.1:c.808G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384867.1:c.610G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384868.1:c.808G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384869.1:c.862G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384870.1:c.931G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384871.1:c.931G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384872.1:c.967G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384873.1:c.853G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384874.1:c.841G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384875.1:c.967G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384876.1:c.817G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384878.1:c.931G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384879.1:c.931G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384892.1:c.841G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384893.1:c.808G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385664.1:c.862G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385665.1:c.931G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385675.1:c.967G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385676.1:c.739G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385677.1:c.931G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385681.1:c.982G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385682.1:c.931G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385684.1:c.931G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385685.1:c.931G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385686.1:c.982G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385687.1:c.982G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385688.1:c.982G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385689.1:c.982G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_002375.5:c.931G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_030885.1:c.931G>A - missense variant - [Sequence Ontology: SO:0001583]