Canonical Allele Identifier: CA343118255
Gene: F5 HGNC NCBI

Linked Data

dbSNP Id: rs1193886936
gnomAD v2: 1-169510954-T-C
gnomAD v4: 1-169541716-T-C
MyVariant Identifiers: chr1:g.169510954T>C (hg19) chr1:g.169541716T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169541716T>C , CM000663.2:g.169541716T>C GRCh38
NC_000001.10:g.169510954T>C , CM000663.1:g.169510954T>C GRCh37
NC_000001.9:g.167777578T>C NCBI36
NG_011806.1:g.49816A>G , LRG_553:g.49816A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000367797.9:c.3374A>G MANE Select ENSP00000356771.3:p.Glu1125Gly
ENST00000367796.3:c.3389A>G ENSP00000356770.3:p.Glu1130Gly
ENST00000367797.7:c.3374A>G ENSP00000356771.3:p.Glu1125Gly
NM_000130.4:c.3374A>G , LRG_553t1:c.3374A>G NP_000121.2:p.Glu1125Gly
XM_017000660.2:c.2963A>G XP_016856149.1:p.Glu988Gly
NM_000130.5:c.3374A>G MANE Select NP_000121.2:p.Glu1125Gly
Search 100 bp 5'
Search 100 bp 3'