Canonical Allele Identifier: CA121130

Gene: F9

Linked Data

• ClinVar Variation Id: 10594
• ClinVar RCV Id: RCV000011340
• dbSNP Id: rs137852243
• MyVariant Identifiers: chrX:g.138633382G>C (hg19) ; chrX:g.139551223G>C (hg38)
• PubMed: PMID:884315 ; PMID:2372509 ; PMID:4163943

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.139551223G>C , CM000685.2:g.139551223G>C	GRCh38
NC_000023.10:g.138633382G>C , CM000685.1:g.138633382G>C	GRCh37
NC_000023.9:g.138461048G>C	NCBI36
NG_007994.1:g.25488G>C , LRG_556:g.25488G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218099.7:c.682G>C MANE Select	ENSP00000218099.2:p.Val228Leu
ENST00000643157.1:n.1349G>C
ENST00000218099.6:c.682G>C	ENSP00000218099.2:p.Val228Leu
ENST00000394090.2:c.568G>C	ENSP00000377650.2:p.Val190Leu
NM_000133.3:c.682G>C , LRG_556t1:c.682G>C	NP_000124.1:p.Val228Leu
NM_001313913.1:c.568G>C	NP_001300842.1:p.Val190Leu
XM_005262397.3:c.553G>C	XP_005262454.1:p.Val185Leu
XM_005262397.4:c.553G>C	XP_005262454.1:p.Val185Leu
NM_000133.4:c.682G>C MANE Select	NP_000124.1:p.Val228Leu
NM_001313913.2:c.568G>C	NP_001300842.1:p.Val190Leu