Canonical Allele Identifier: CA343129710
Community Standard Title: NM_000130.5(F5):c.5368A>C (p.Ser1790Arg)
Gene: F5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169529659T>G , CM000663.2:g.169529659T>G GRCh38
NC_000001.10:g.169498897T>G , CM000663.1:g.169498897T>G GRCh37
NC_000001.9:g.167765521T>G NCBI36
NG_011806.1:g.61873A>C , LRG_553:g.61873A>C

Transcript Alleles

HGVS Amino-acid Change
NM_000130.5:c.5368A>C MANE Select NP_000121.2:p.Ser1790Arg
ENST00000367797.9:c.5368A>C MANE Select ENSP00000356771.3:p.Ser1790Arg
NM_000130.4:c.5368A>C , LRG_553t1:c.5368A>C NP_000121.2:p.Ser1790Arg
ENST00000367796.3:c.5383A>C ENSP00000356770.3:p.Ser1795Arg
ENST00000367797.7:c.5368A>C ENSP00000356771.3:p.Ser1790Arg
XM_017000660.2:c.4957A>C XP_016856149.1:p.Ser1653Arg