Canonical Allele Identifier: CA1233941
Gene: F5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1081846
ClinVar RCV Id: RCV002322385 RCV003595766
dbSNP Id: rs116407347
ExAC: 1:169511071 A / G
gnomAD v2: 1-169511071-A-G
gnomAD v3: 1-169541833-A-G
gnomAD v4: 1-169541833-A-G
MyVariant Identifiers: chr1:g.169511071A>G (hg19) chr1:g.169541833A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169541833A>G , CM000663.2:g.169541833A>G GRCh38
NC_000001.10:g.169511071A>G , CM000663.1:g.169511071A>G GRCh37
NC_000001.9:g.167777695A>G NCBI36
NG_011806.1:g.49699T>C , LRG_553:g.49699T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367797.9:c.3257T>C MANE Select ENSP00000356771.3:p.Leu1086Ser
ENST00000367796.3:c.3272T>C ENSP00000356770.3:p.Leu1091Ser
ENST00000367797.7:c.3257T>C ENSP00000356771.3:p.Leu1086Ser
NM_000130.4:c.3257T>C , LRG_553t1:c.3257T>C NP_000121.2:p.Leu1086Ser
XM_017000660.2:c.2846T>C XP_016856149.1:p.Leu949Ser
NM_000130.5:c.3257T>C MANE Select NP_000121.2:p.Leu1086Ser
Search 100 bp 5'
Search 100 bp 3'