Canonical Allele Identifier: CA1234657
Gene: F5 HGNC NCBI

Linked Data

dbSNP Id: rs754465637
ExAC: 1:169541517 C / T
gnomAD v2: 1-169541517-C-T
gnomAD v3: 1-169572279-C-T
gnomAD v4: 1-169572279-C-T
MyVariant Identifiers: chr1:g.169541517C>T (hg19) chr1:g.169572279C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169572279C>T , CM000663.2:g.169572279C>T GRCh38
NC_000001.10:g.169541517C>T , CM000663.1:g.169541517C>T GRCh37
NC_000001.9:g.167808141C>T NCBI36
NG_011806.1:g.19253G>A , LRG_553:g.19253G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367797.9:c.315G>A MANE Select ENSP00000356771.3:p.Lys105=
ENST00000367796.3:c.315G>A ENSP00000356770.3:p.Lys105=
ENST00000367797.7:c.315G>A ENSP00000356771.3:p.Lys105=
NM_000130.4:c.315G>A , LRG_553t1:c.315G>A NP_000121.2:p.Lys105=
XM_017000660.2:c.-97G>A XP_016856149.1:n.-97G>A
NM_000130.5:c.315G>A MANE Select NP_000121.2:p.Lys105=
Search 100 bp 5'
Search 100 bp 3'