Canonical Allele Identifier: CA1233935
Gene: F5 HGNC NCBI

Linked Data

dbSNP Id: rs746520542
ExAC: 1:169511048 T / G
gnomAD v2: 1-169511048-T-G
gnomAD v4: 1-169541810-T-G
MyVariant Identifiers: chr1:g.169511048T>G (hg19) chr1:g.169541810T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169541810T>G , CM000663.2:g.169541810T>G GRCh38
NC_000001.10:g.169511048T>G , CM000663.1:g.169511048T>G GRCh37
NC_000001.9:g.167777672T>G NCBI36
NG_011806.1:g.49722A>C , LRG_553:g.49722A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000367797.9:c.3280A>C MANE Select ENSP00000356771.3:p.Ile1094Leu
ENST00000367796.3:c.3295A>C ENSP00000356770.3:p.Ile1099Leu
ENST00000367797.7:c.3280A>C ENSP00000356771.3:p.Ile1094Leu
NM_000130.4:c.3280A>C , LRG_553t1:c.3280A>C NP_000121.2:p.Ile1094Leu
XM_017000660.2:c.2869A>C XP_016856149.1:p.Ile957Leu
NM_000130.5:c.3280A>C MANE Select NP_000121.2:p.Ile1094Leu
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