Canonical Allele Identifier: CA1233999
Community Standard Title: NM_000130.5(F5):c.2939G>T (p.Arg980Leu)
Gene: F5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169542151C>A , CM000663.2:g.169542151C>A GRCh38
NC_000001.10:g.169511389C>A , CM000663.1:g.169511389C>A GRCh37
NC_000001.9:g.167778013C>A NCBI36
NG_011806.1:g.49381G>T , LRG_553:g.49381G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000130.5:c.2939G>T MANE Select NP_000121.2:p.Arg980Leu
ENST00000367797.9:c.2939G>T MANE Select ENSP00000356771.3:p.Arg980Leu
NM_000130.4:c.2939G>T , LRG_553t1:c.2939G>T NP_000121.2:p.Arg980Leu
ENST00000367796.3:c.2954G>T ENSP00000356770.3:p.Arg985Leu
ENST00000367797.7:c.2939G>T ENSP00000356771.3:p.Arg980Leu
XM_017000660.2:c.2528G>T XP_016856149.1:p.Arg843Leu