Canonical Allele Identifier: CA1234009
Gene: F5 HGNC NCBI

Linked Data

ClinVar Variation Id: 293616
ClinVar RCV Id: RCV000285967 RCV000345503 RCV000380348 RCV000396759 RCV003595923
dbSNP Id: rs9332604
ExAC: 1:169511422 T / C
gnomAD v2: 1-169511422-T-C
gnomAD v3: 1-169542184-T-C
gnomAD v4: 1-169542184-T-C
MyVariant Identifiers: chr1:g.169511422T>C (hg19) chr1:g.169542184T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169542184T>C , CM000663.2:g.169542184T>C GRCh38
NC_000001.10:g.169511422T>C , CM000663.1:g.169511422T>C GRCh37
NC_000001.9:g.167778046T>C NCBI36
NG_011806.1:g.49348A>G , LRG_553:g.49348A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000367797.9:c.2906A>G MANE Select ENSP00000356771.3:p.Asn969Ser
ENST00000367796.3:c.2921A>G ENSP00000356770.3:p.Asn974Ser
ENST00000367797.7:c.2906A>G ENSP00000356771.3:p.Asn969Ser
NM_000130.4:c.2906A>G , LRG_553t1:c.2906A>G NP_000121.2:p.Asn969Ser
XM_017000660.2:c.2495A>G XP_016856149.1:p.Asn832Ser
NM_000130.5:c.2906A>G MANE Select NP_000121.2:p.Asn969Ser
Search 100 bp 5'
Search 100 bp 3'