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Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.190408408A>G , CM000665.2:g.190408408A>G
GRCh38
NC_000003.11:g.190126197A>G , CM000665.1:g.190126197A>G
GRCh37
NC_000003.10:g.191608891A>G
NCBI36
NG_008149.1:g.25357A>G
Transcript Alleles
HGVS
Amino-acid Change
NM_006580.4:c.477A>G
MANE Select
NP_006571.2:p.Gln159=
ENST00000264734.3:c.477A>G
MANE Select
ENSP00000264734.3:p.Gln159=
NM_001378492.1:c.477A>G
NP_001365421.1:p.Gln159=
NM_001378493.1:c.477A>G
NP_001365422.1:p.Gln159=
NM_006580.3:c.687A>G
NP_006571.1:p.Gln229=
ENST00000264734.2:c.687A>G
ENSP00000264734.2:p.Gln229=
ENST00000456423.1:c.325-1495A>G
ENSP00000414136.1:n.325-1495A>G
ENST00000456423.2:c.115-1495A>G
ENSP00000414136.2:n.115-1495A>G