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Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.154569602A>C , CM000666.2:g.154569602A>C
GRCh38
NC_000004.11:g.155490754A>C , CM000666.1:g.155490754A>C
GRCh37
NC_000004.10:g.155710204A>C
NCBI36
NG_008833.1:g.11623A>C , LRG_558:g.11623A>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000302068.9:c.1047A>C
MANE Select
ENSP00000306099.4:p.Gly349=
ENST00000302068.8:c.1047A>C
ENSP00000306099.4:p.Gly349=
ENST00000502545.5:n.939+295A>C
ENST00000509493.1:c.390A>C
ENSP00000426757.1:p.Gly130=
NM_001184741.1:c.870A>C
NP_001171670.1:p.Gly290=
NM_005141.4:c.1047A>C , LRG_558t1:c.1047A>C
NP_005132.2:p.Gly349=
NM_001382759.1:c.915A>C
NP_001369688.1:p.Gly305=
NM_001382760.1:c.1047A>C
NP_001369689.1:p.Gly349=
NM_001382761.1:c.1047A>C
NP_001369690.1:p.Gly349=
NM_001382762.1:c.747A>C
NP_001369691.1:p.Gly249=
NM_001382763.1:c.1038A>C
NP_001369692.1:p.Gly346=
NM_001382764.1:c.1047A>C
NP_001369693.1:p.Gly349=
NM_001382765.1:c.1047A>C
NP_001369694.1:p.Gly349=
NM_005141.5:c.1047A>C
MANE Select
NP_005132.2:p.Gly349=