Canonical Allele Identifier: CA1234036
Community Standard Title: NM_000130.5(F5):c.2752C>T (p.Pro918Ser)
Gene: F5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169542338G>A , CM000663.2:g.169542338G>A GRCh38
NC_000001.10:g.169511576G>A , CM000663.1:g.169511576G>A GRCh37
NC_000001.9:g.167778200G>A NCBI36
NG_011806.1:g.49194C>T , LRG_553:g.49194C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000130.5:c.2752C>T MANE Select NP_000121.2:p.Pro918Ser
ENST00000367797.9:c.2752C>T MANE Select ENSP00000356771.3:p.Pro918Ser
NM_000130.4:c.2752C>T , LRG_553t1:c.2752C>T NP_000121.2:p.Pro918Ser
ENST00000367796.3:c.2767C>T ENSP00000356770.3:p.Pro923Ser
ENST00000367797.7:c.2752C>T ENSP00000356771.3:p.Pro918Ser
XM_017000660.2:c.2341C>T XP_016856149.1:p.Pro781Ser