Canonical Allele Identifier: CA3114623
Community Standard Title: NM_005141.5(FGB):c.762G>A (p.Met254Ile)
Gene: FGB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.154568424G>A , CM000666.2:g.154568424G>A GRCh38
NC_000004.11:g.155489576G>A , CM000666.1:g.155489576G>A GRCh37
NC_000004.10:g.155709026G>A NCBI36
NG_008833.1:g.10445G>A , LRG_558:g.10445G>A

Transcript Alleles

HGVS Amino-acid Change
NM_005141.5:c.762G>A MANE Select NP_005132.2:p.Met254Ile
ENST00000302068.9:c.762G>A MANE Select ENSP00000306099.4:p.Met254Ile
NM_001184741.1:c.585G>A NP_001171670.1:p.Met195Ile
NM_001382759.1:c.630G>A NP_001369688.1:p.Met210Ile
NM_001382760.1:c.762G>A NP_001369689.1:p.Met254Ile
NM_001382761.1:c.762G>A NP_001369690.1:p.Met254Ile
NM_001382762.1:c.745+17G>A NP_001369691.1:n.745+17G>A
NM_001382763.1:c.762G>A NP_001369692.1:p.Met254Ile
NM_001382764.1:c.762G>A NP_001369693.1:p.Met254Ile
NM_001382765.1:c.762G>A NP_001369694.1:p.Met254Ile
NM_005141.4:c.762G>A , LRG_558t1:c.762G>A NP_005132.2:p.Met254Ile
ENST00000302068.8:c.762G>A ENSP00000306099.4:p.Met254Ile
ENST00000502545.5:n.743G>A
ENST00000509493.1:c.105G>A ENSP00000426757.1:p.Met35Ile