Canonical Allele Identifier: CA126442
Gene: FGB HGNC NCBI

Linked Data

ClinVar Variation Id: 16389
ClinVar RCV Id: RCV000017815
dbSNP Id: rs121909621

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.154569703T>G , CM000666.2:g.154569703T>G GRCh38
NC_000004.11:g.155490855T>G , CM000666.1:g.155490855T>G GRCh37
NC_000004.10:g.155710305T>G NCBI36
NG_008833.1:g.11724T>G , LRG_558:g.11724T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000302068.9:c.1148T>G MANE Select ENSP00000306099.4:p.Leu383Arg
ENST00000302068.8:c.1148T>G ENSP00000306099.4:p.Leu383Arg
ENST00000502545.5:n.939+396T>G
ENST00000509493.1:c.491T>G ENSP00000426757.1:p.Leu164Arg
NM_001184741.1:c.971T>G NP_001171670.1:p.Leu324Arg
NM_005141.4:c.1148T>G , LRG_558t1:c.1148T>G NP_005132.2:p.Leu383Arg
NM_001382759.1:c.1016T>G NP_001369688.1:p.Leu339Arg
NM_001382760.1:c.1148T>G NP_001369689.1:p.Leu383Arg
NM_001382761.1:c.1148T>G NP_001369690.1:p.Leu383Arg
NM_001382762.1:c.848T>G NP_001369691.1:p.Leu283Arg
NM_001382763.1:c.1139T>G NP_001369692.1:p.Leu380Arg
NM_001382764.1:c.1080+68T>G NP_001369693.1:n.1080+68T>G
NM_001382765.1:c.1148T>G NP_001369694.1:p.Leu383Arg
NM_005141.5:c.1148T>G MANE Select NP_005132.2:p.Leu383Arg