Canonical Allele Identifier: CA343136000
Community Standard Title: NM_000130.5(F5):c.653T>C (p.Phe218Ser)
Gene: F5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169559230A>G , CM000663.2:g.169559230A>G GRCh38
NC_000001.10:g.169528468A>G , CM000663.1:g.169528468A>G GRCh37
NC_000001.9:g.167795092A>G NCBI36
NG_011806.1:g.32302T>C , LRG_553:g.32302T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000130.5:c.653T>C MANE Select NP_000121.2:p.Phe218Ser
ENST00000367797.9:c.653T>C MANE Select ENSP00000356771.3:p.Phe218Ser
NM_000130.4:c.653T>C , LRG_553t1:c.653T>C NP_000121.2:p.Phe218Ser
ENST00000367796.3:c.653T>C ENSP00000356770.3:p.Phe218Ser
ENST00000367797.7:c.653T>C ENSP00000356771.3:p.Phe218Ser
XM_017000660.2:c.242T>C XP_016856149.1:p.Phe81Ser