Canonical Allele Identifier: CA1233933
Gene: F5 HGNC NCBI

Linked Data

ClinVar Variation Id: 293610
ClinVar RCV Id: RCV000263962 RCV000272356 RCV000302833 RCV000364510
dbSNP Id: rs188882337
ExAC: 1:169511017 G / T
gnomAD v2: 1-169511017-G-T
gnomAD v3: 1-169541779-G-T
gnomAD v4: 1-169541779-G-T
MyVariant Identifiers: chr1:g.169511017G>T (hg19) chr1:g.169541779G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169541779G>T , CM000663.2:g.169541779G>T GRCh38
NC_000001.10:g.169511017G>T , CM000663.1:g.169511017G>T GRCh37
NC_000001.9:g.167777641G>T NCBI36
NG_011806.1:g.49753C>A , LRG_553:g.49753C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367797.9:c.3311C>A MANE Select ENSP00000356771.3:p.Ser1104Tyr
ENST00000367796.3:c.3326C>A ENSP00000356770.3:p.Ser1109Tyr
ENST00000367797.7:c.3311C>A ENSP00000356771.3:p.Ser1104Tyr
NM_000130.4:c.3311C>A , LRG_553t1:c.3311C>A NP_000121.2:p.Ser1104Tyr
XM_017000660.2:c.2900C>A XP_016856149.1:p.Ser967Tyr
NM_000130.5:c.3311C>A MANE Select NP_000121.2:p.Ser1104Tyr
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