Canonical Allele Identifier: CA336130710
Gene: F9 HGNC NCBI

Linked Data

ClinVar Variation Id: 811523
ClinVar RCV Id: RCV001001440
dbSNP Id: rs137852224

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.139537111T>C , CM000685.2:g.139537111T>C GRCh38
NC_000023.10:g.138619270T>C , CM000685.1:g.138619270T>C GRCh37
NC_000023.9:g.138446936T>C NCBI36
NG_007994.1:g.11376T>C , LRG_556:g.11376T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000218099.7:c.190T>C MANE Select ENSP00000218099.2:p.Cys64Arg
ENST00000218099.6:c.190T>C ENSP00000218099.2:p.Cys64Arg
ENST00000394090.2:c.190T>C ENSP00000377650.2:p.Cys64Arg
ENST00000479617.2:n.197T>C
NM_000133.3:c.190T>C , LRG_556t1:c.190T>C NP_000124.1:p.Cys64Arg
NM_001313913.1:c.190T>C NP_001300842.1:p.Cys64Arg
XM_005262397.3:c.190T>C XP_005262454.1:p.Cys64Arg
XM_005262397.4:c.190T>C XP_005262454.1:p.Cys64Arg
NM_000133.4:c.190T>C MANE Select NP_000124.1:p.Cys64Arg
NM_001313913.2:c.190T>C NP_001300842.1:p.Cys64Arg