Canonical Allele Identifier: CA1233631
Community Standard Title: NM_000130.5(F5):c.4813G>C (p.Asp1605His)
Gene: F5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169536664C>G , CM000663.2:g.169536664C>G GRCh38
NC_000001.10:g.169505902C>G , CM000663.1:g.169505902C>G GRCh37
NC_000001.9:g.167772526C>G NCBI36
NG_011806.1:g.54868G>C , LRG_553:g.54868G>C

Transcript Alleles

HGVS Amino-acid Change
NM_000130.5:c.4813G>C MANE Select NP_000121.2:p.Asp1605His
ENST00000367797.9:c.4813G>C MANE Select ENSP00000356771.3:p.Asp1605His
NM_000130.4:c.4813G>C , LRG_553t1:c.4813G>C NP_000121.2:p.Asp1605His
ENST00000367796.3:c.4828G>C ENSP00000356770.3:p.Asp1610His
ENST00000367797.7:c.4813G>C ENSP00000356771.3:p.Asp1605His
XM_017000660.2:c.4402G>C XP_016856149.1:p.Asp1468His