Canonical Allele Identifier: CA343131944
Gene: F5 HGNC NCBI

Linked Data

dbSNP Id: rs760795022
gnomAD v3: 1-169555287-T-C
gnomAD v4: 1-169555287-T-C
MyVariant Identifiers: chr1:g.169524525T>C (hg19) chr1:g.169555287T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169555287T>C , CM000663.2:g.169555287T>C GRCh38
NC_000001.10:g.169524525T>C , CM000663.1:g.169524525T>C GRCh37
NC_000001.9:g.167791149T>C NCBI36
NG_011806.1:g.36245A>G , LRG_553:g.36245A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000367797.9:c.1013A>G MANE Select ENSP00000356771.3:p.Lys338Arg
ENST00000367796.3:c.1013A>G ENSP00000356770.3:p.Lys338Arg
ENST00000367797.7:c.1013A>G ENSP00000356771.3:p.Lys338Arg
NM_000130.4:c.1013A>G , LRG_553t1:c.1013A>G NP_000121.2:p.Lys338Arg
XM_017000660.2:c.602A>G XP_016856149.1:p.Lys201Arg
NM_000130.5:c.1013A>G MANE Select NP_000121.2:p.Lys338Arg
Search 100 bp 5'
Search 100 bp 3'