Canonical Allele Identifier: CA1234586
Gene: F5 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.169560588C>T
GRCh37 chr1:g.169529826C>T
gnomAD v2:
1:169529826 C / T
gnomAD v3:
1:169560588 C / T
gnomAD v4:
chr1-169560588-C-T
Joint Max Group AF 0.00005798 (MID)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00006092 (MID)
ClinVar RCV:
RCV003596746
ClinVar Variation:
2723680
dbSNP:
6022
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169560588C>T , CM000663.2:g.169560588C>T GRCh38
NC_000001.10:g.169529826C>T , CM000663.1:g.169529826C>T GRCh37
NC_000001.9:g.167796450C>T NCBI36
NG_011806.1:g.30944G>A , LRG_553:g.30944G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367797.9:c.552G>A MANE Select ENSP00000356771.3:p.Ser184=
ENST00000367796.3:c.552G>A ENSP00000356770.3:p.Ser184=
ENST00000367797.7:c.552G>A ENSP00000356771.3:p.Ser184=
NM_000130.4:c.552G>A , LRG_553t1:c.552G>A NP_000121.2:p.Ser184=
XM_017000660.2:c.141G>A XP_016856149.1:p.Ser47=
NM_000130.5:c.552G>A MANE Select NP_000121.2:p.Ser184=
Search 100 bp 5'
Search 100 bp 3'