Canonical Allele Identifier: CA1234408
Gene: F5 HGNC NCBI

Linked Data

dbSNP Id: rs774767478
ExAC: 1:169521967 T / C
gnomAD v2: 1-169521967-T-C
MyVariant Identifiers: chr1:g.169521967T>C (hg19) chr1:g.169552729T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169552729T>C , CM000663.2:g.169552729T>C GRCh38
NC_000001.10:g.169521967T>C , CM000663.1:g.169521967T>C GRCh37
NC_000001.9:g.167788591T>C NCBI36
NG_011806.1:g.38803A>G , LRG_553:g.38803A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000367797.9:c.1124A>G MANE Select ENSP00000356771.3:p.Tyr375Cys
ENST00000367796.3:c.1124A>G ENSP00000356770.3:p.Tyr375Cys
ENST00000367797.7:c.1124A>G ENSP00000356771.3:p.Tyr375Cys
NM_000130.4:c.1124A>G , LRG_553t1:c.1124A>G NP_000121.2:p.Tyr375Cys
XM_017000660.2:c.713A>G XP_016856149.1:p.Tyr238Cys
NM_000130.5:c.1124A>G MANE Select NP_000121.2:p.Tyr375Cys
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