Canonical Allele Identifier: CA256478700
Gene: F10 HGNC NCBI

Linked Data

ClinVar Variation Id: 12060
ClinVar RCV Id: RCV000012840
dbSNP Id: rs121964941

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.113149170T>C , CM000675.2:g.113149170T>C GRCh38
NC_000013.10:g.113803484T>C , CM000675.1:g.113803484T>C GRCh37
NC_000013.9:g.112851485T>C NCBI36
NG_009258.1:g.31372T>C , LRG_548:g.31372T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000375559.8:c.1120T>C MANE Select ENSP00000364709.3:p.Ser374Pro
ENST00000375551.7:c.*111T>C ENSP00000364701.3:n.*111T>C
ENST00000375559.7:c.1120T>C ENSP00000364709.3:p.Ser374Pro
ENST00000409306.5:c.*111T>C ENSP00000387092.1:n.*111T>C
NM_000504.3:c.1120T>C , LRG_548t1:c.1120T>C NP_000495.1:p.Ser374Pro
NM_001312674.1:c.988T>C NP_001299603.1:p.Ser330Pro
NM_001312675.1:c.*111T>C NP_001299604.1:n.*111T>C
NM_000504.4:c.1120T>C MANE Select NP_000495.1:p.Ser374Pro
NM_001312674.2:c.988T>C NP_001299603.1:p.Ser330Pro
NM_001312675.2:c.*111T>C NP_001299604.1:n.*111T>C