ENST00000529510.6:n.617G>C
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ENST00000697845.1:n.541G>C
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ENST00000697846.1:n.617G>C
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|
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ENST00000697847.1:n.617G>C
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|
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ENST00000697848.1:n.617G>C
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|
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ENST00000697849.1:n.1656G>C
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|
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ENST00000697850.1:n.617G>C
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ENST00000697851.1:n.1977G>C
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|
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ENST00000638186.1:n.691G>C
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ENST00000638360.1:n.619-96G>C
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ENST00000638925.1:n.624G>C
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ENST00000650539.1:n.793G>C
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|
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ENST00000330775.9:c.388G>C
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ENSP00000476242.2:p.Glu130Gln
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ENST00000357590.9:c.388G>C
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ENSP00000476176.2:p.Glu130Gln
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ENST00000524428.5:n.709G>C
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ENST00000525039.5:n.811G>C
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ENST00000525102.5:n.1145G>C
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|
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ENST00000525372.5:n.388G>C
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|
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ENST00000525787.1:n.1004G>C
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|
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ENST00000526275.5:n.1169G>C
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|
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ENST00000526626.6:n.350G>C
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|
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ENST00000527992.5:n.615G>C
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|
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ENST00000529510.5:n.399+328G>C
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|
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ENST00000530407.5:n.537G>C
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ENST00000532085.1:n.2998G>C
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|
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ENST00000532888.6:n.683G>C
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|
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ENST00000538950.5:c.169G>C
|
ENSP00000475991.2:p.Glu57Gln
|
|
ENST00000545985.5:c.388G>C
|
ENSP00000475241.2:p.Glu130Gln
|
|
NM_001164277.1:c.388G>C , LRG_187t1:c.388G>C
|
NP_001157749.1:p.Glu130Gln
|
|
NM_001164278.1:c.388G>C
|
NP_001157750.1:p.Glu130Gln
|
|
NM_001164279.1:c.169G>C
|
NP_001157751.1:p.Glu57Gln
|
|
NM_001164280.1:c.388G>C
|
NP_001157752.1:p.Glu130Gln
|
|
NM_001467.5:c.388G>C
|
NP_001458.1:p.Glu130Gln
|
|
NM_001164278.2:c.388G>C
|
NP_001157750.1:p.Glu130Gln
|
|
NM_001164279.2:c.169G>C
|
NP_001157751.1:p.Glu57Gln
|
|
NM_001164280.2:c.388G>C
|
NP_001157752.1:p.Glu130Gln
|
|
NM_001467.6:c.388G>C
|
NP_001458.1:p.Glu130Gln
|
|
NM_001164277.2:c.388G>C
MANE Select
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NP_001157749.1:p.Glu130Gln
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