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Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.154569617T>A , CM000666.2:g.154569617T>A
GRCh38
NC_000004.11:g.155490769T>A , CM000666.1:g.155490769T>A
GRCh37
NC_000004.10:g.155710219T>A
NCBI36
NG_008833.1:g.11638T>A , LRG_558:g.11638T>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000302068.9:c.1062T>A
MANE Select
ENSP00000306099.4:p.Ala354=
ENST00000302068.8:c.1062T>A
ENSP00000306099.4:p.Ala354=
ENST00000502545.5:n.939+310T>A
ENST00000509493.1:c.405T>A
ENSP00000426757.1:p.Ala135=
NM_001184741.1:c.885T>A
NP_001171670.1:p.Ala295=
NM_005141.4:c.1062T>A , LRG_558t1:c.1062T>A
NP_005132.2:p.Ala354=
NM_001382759.1:c.930T>A
NP_001369688.1:p.Ala310=
NM_001382760.1:c.1062T>A
NP_001369689.1:p.Ala354=
NM_001382761.1:c.1062T>A
NP_001369690.1:p.Ala354=
NM_001382762.1:c.762T>A
NP_001369691.1:p.Ala254=
NM_001382763.1:c.1053T>A
NP_001369692.1:p.Ala351=
NM_001382764.1:c.1062T>A
NP_001369693.1:p.Ala354=
NM_001382765.1:c.1062T>A
NP_001369694.1:p.Ala354=
NM_005141.5:c.1062T>A
MANE Select
NP_005132.2:p.Ala354=