Canonical Allele Identifier: CA343129192
Gene: F5 HGNC NCBI

Linked Data

dbSNP Id: rs1386637285

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169552712C>G , CM000663.2:g.169552712C>G GRCh38
NC_000001.10:g.169521950C>G , CM000663.1:g.169521950C>G GRCh37
NC_000001.9:g.167788574C>G NCBI36
NG_011806.1:g.38820G>C , LRG_553:g.38820G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367797.9:c.1141G>C MANE Select ENSP00000356771.3:p.Asp381His
ENST00000367796.3:c.1141G>C ENSP00000356770.3:p.Asp381His
ENST00000367797.7:c.1141G>C ENSP00000356771.3:p.Asp381His
NM_000130.4:c.1141G>C , LRG_553t1:c.1141G>C NP_000121.2:p.Asp381His
XM_017000660.2:c.730G>C XP_016856149.1:p.Asp244His
NM_000130.5:c.1141G>C MANE Select NP_000121.2:p.Asp381His