Canonical Allele Identifier: CA3114619
Community Standard Title: NM_005141.5(FGB):c.749A>G (p.Glu250Gly)
Gene: FGB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.154568411A>G , CM000666.2:g.154568411A>G GRCh38
NC_000004.11:g.155489563A>G , CM000666.1:g.155489563A>G GRCh37
NC_000004.10:g.155709013A>G NCBI36
NG_008833.1:g.10432A>G , LRG_558:g.10432A>G

Transcript Alleles

HGVS Amino-acid Change
NM_005141.5:c.749A>G MANE Select NP_005132.2:p.Glu250Gly
ENST00000302068.9:c.749A>G MANE Select ENSP00000306099.4:p.Glu250Gly
NM_001184741.1:c.572A>G NP_001171670.1:p.Glu191Gly
NM_001382759.1:c.617A>G NP_001369688.1:p.Glu206Gly
NM_001382760.1:c.749A>G NP_001369689.1:p.Glu250Gly
NM_001382761.1:c.749A>G NP_001369690.1:p.Glu250Gly
NM_001382762.1:c.745+4A>G NP_001369691.1:n.745+4A>G
NM_001382763.1:c.749A>G NP_001369692.1:p.Glu250Gly
NM_001382764.1:c.749A>G NP_001369693.1:p.Glu250Gly
NM_001382765.1:c.749A>G NP_001369694.1:p.Glu250Gly
NM_005141.4:c.749A>G , LRG_558t1:c.749A>G NP_005132.2:p.Glu250Gly
ENST00000302068.8:c.749A>G ENSP00000306099.4:p.Glu250Gly
ENST00000502545.5:n.730A>G
ENST00000509493.1:c.92A>G ENSP00000426757.1:p.Glu31Gly