Canonical Allele Identifier: CA114381
Gene: F5 HGNC NCBI

Linked Data

ClinVar Variation Id: 643
dbSNP Id: rs118203905

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169555300T>C , CM000663.2:g.169555300T>C GRCh38
NC_000001.10:g.169524538T>C , CM000663.1:g.169524538T>C GRCh37
NC_000001.9:g.167791162T>C NCBI36
NG_011806.1:g.36232A>G , LRG_553:g.36232A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000367797.9:c.1000A>G MANE Select ENSP00000356771.3:p.Arg334Gly
ENST00000367796.3:c.1000A>G ENSP00000356770.3:p.Arg334Gly
ENST00000367797.7:c.1000A>G ENSP00000356771.3:p.Arg334Gly
NM_000130.4:c.1000A>G , LRG_553t1:c.1000A>G NP_000121.2:p.Arg334Gly
XM_017000660.2:c.589A>G XP_016856149.1:p.Arg197Gly
NM_000130.5:c.1000A>G MANE Select NP_000121.2:p.Arg334Gly