Canonical Allele Identifier: CA121840
Gene: F10 HGNC NCBI

Linked Data

ClinVar Variation Id: 12059
ClinVar RCV Id: RCV000012839
dbSNP Id: rs121964948
MyVariant Identifiers: chr13:g.113801804A>T (hg19) chr13:g.113147490A>T (hg38)
PubMed: PMID:8845463 PMID:10746568
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.113147490A>T , CM000675.2:g.113147490A>T GRCh38
NC_000013.10:g.113801804A>T , CM000675.1:g.113801804A>T GRCh37
NC_000013.9:g.112849805A>T NCBI36
NG_009258.1:g.29692A>T , LRG_548:g.29692A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000375559.8:c.859A>T MANE Select ENSP00000364709.3:p.Arg287Trp
ENST00000375551.7:c.855+4A>T ENSP00000364701.3:n.855+4A>T
ENST00000375559.7:c.859A>T ENSP00000364709.3:p.Arg287Trp
ENST00000409306.5:c.859A>T ENSP00000387092.1:p.Arg287Trp
NM_000504.3:c.859A>T , LRG_548t1:c.859A>T NP_000495.1:p.Arg287Trp
NM_001312674.1:c.727A>T NP_001299603.1:p.Arg243Trp
NM_001312675.1:c.855+4A>T NP_001299604.1:n.855+4A>T
NM_000504.4:c.859A>T MANE Select NP_000495.1:p.Arg287Trp
NM_001312674.2:c.727A>T NP_001299603.1:p.Arg243Trp
NM_001312675.2:c.855+4A>T NP_001299604.1:n.855+4A>T
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