Canonical Allele Identifier: CA3114590
Community Standard Title: NM_005141.5(FGB):c.682A>G (p.Thr228Ala)
Gene: FGB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.154567784A>G , CM000666.2:g.154567784A>G GRCh38
NC_000004.11:g.155488936A>G , CM000666.1:g.155488936A>G GRCh37
NC_000004.10:g.155708386A>G NCBI36
NG_008833.1:g.9805A>G , LRG_558:g.9805A>G

Transcript Alleles

HGVS Amino-acid Change
NM_005141.5:c.682A>G MANE Select NP_005132.2:p.Thr228Ala
ENST00000302068.9:c.682A>G MANE Select ENSP00000306099.4:p.Thr228Ala
NM_001184741.1:c.505A>G NP_001171670.1:p.Thr169Ala
NM_001382759.1:c.550A>G NP_001369688.1:p.Thr184Ala
NM_001382760.1:c.682A>G NP_001369689.1:p.Thr228Ala
NM_001382761.1:c.682A>G NP_001369690.1:p.Thr228Ala
NM_001382762.1:c.682A>G NP_001369691.1:p.Thr228Ala
NM_001382763.1:c.682A>G NP_001369692.1:p.Thr228Ala
NM_001382764.1:c.682A>G NP_001369693.1:p.Thr228Ala
NM_001382765.1:c.682A>G NP_001369694.1:p.Thr228Ala
NM_005141.4:c.682A>G , LRG_558t1:c.682A>G NP_005132.2:p.Thr228Ala
ENST00000302068.8:c.682A>G ENSP00000306099.4:p.Thr228Ala
ENST00000473984.1:n.595A>G
ENST00000502545.5:n.663A>G
ENST00000509493.1:c.25A>G ENSP00000426757.1:p.Thr9Ala