Canonical Allele Identifier: CA1234733
Community Standard Title: NM_000130.5(F5):c.136C>G (p.Arg46Gly)
Gene: F5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169586251G>C , CM000663.2:g.169586251G>C GRCh38
NC_000001.10:g.169555489G>C , CM000663.1:g.169555489G>C GRCh37
NC_000001.9:g.167822113G>C NCBI36
NG_011806.1:g.5281C>G , LRG_553:g.5281C>G

Transcript Alleles

HGVS Amino-acid Change
NM_000130.5:c.136C>G MANE Select NP_000121.2:p.Arg46Gly
ENST00000367797.9:c.136C>G MANE Select ENSP00000356771.3:p.Arg46Gly
NM_000130.4:c.136C>G , LRG_553t1:c.136C>G NP_000121.2:p.Arg46Gly
ENST00000367796.3:c.136C>G ENSP00000356770.3:p.Arg46Gly
ENST00000367797.7:c.136C>G ENSP00000356771.3:p.Arg46Gly
XM_017000660.2:c.-184C>G XP_016856149.1:n.-184C>G