Canonical Allele Identifier: CA340993
Gene: F9 HGNC NCBI

Linked Data

ClinVar Variation Id: 10572
ClinVar RCV Id: RCV000011318 RCV000696946
dbSNP Id: rs137852227
COSMIC: COSM1115958
MyVariant Identifiers: chrX:g.138619303C>T (hg19) chrX:g.139537144C>T (hg38)
PubMed: PMID:2198809 PMID:2743975 PMID:20301668
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.139537144C>T , CM000685.2:g.139537144C>T GRCh38
NC_000023.10:g.138619303C>T , CM000685.1:g.138619303C>T GRCh37
NC_000023.9:g.138446969C>T NCBI36
NG_007994.1:g.11409C>T , LRG_556:g.11409C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000218099.7:c.223C>T MANE Select ENSP00000218099.2:p.Arg75Ter
ENST00000218099.6:c.223C>T ENSP00000218099.2:p.Arg75Ter
ENST00000394090.2:c.223C>T ENSP00000377650.2:p.Arg75Ter
ENST00000479617.2:n.230C>T
NM_000133.3:c.223C>T , LRG_556t1:c.223C>T NP_000124.1:p.Arg75Ter
NM_001313913.1:c.223C>T NP_001300842.1:p.Arg75Ter
XM_005262397.3:c.223C>T XP_005262454.1:p.Arg75Ter
XM_005262397.4:c.223C>T XP_005262454.1:p.Arg75Ter
NM_000133.4:c.223C>T MANE Select NP_000124.1:p.Arg75Ter
NM_001313913.2:c.223C>T NP_001300842.1:p.Arg75Ter
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