Canonical Allele Identifier: CA1233447
Gene: F5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2887933
ClinVar RCV Id: RCV003763676
dbSNP Id: rs776346830
ExAC: 1:169495197 T / G
gnomAD v2: 1-169495197-T-G
gnomAD v4: 1-169525959-T-G
MyVariant Identifiers: chr1:g.169495197T>G (hg19) chr1:g.169525959T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169525959T>G , CM000663.2:g.169525959T>G GRCh38
NC_000001.10:g.169495197T>G , CM000663.1:g.169495197T>G GRCh37
NC_000001.9:g.167761821T>G NCBI36
NG_011806.1:g.65573A>C , LRG_553:g.65573A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000367797.9:c.5658A>C MANE Select ENSP00000356771.3:p.Thr1886=
ENST00000367796.3:c.5673A>C ENSP00000356770.3:p.Thr1891=
ENST00000367797.7:c.5658A>C ENSP00000356771.3:p.Thr1886=
NM_000130.4:c.5658A>C , LRG_553t1:c.5658A>C NP_000121.2:p.Thr1886=
XM_017000660.2:c.5247A>C XP_016856149.1:p.Thr1749=
NM_000130.5:c.5658A>C MANE Select NP_000121.2:p.Thr1886=
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