Canonical Allele Identifier: CA1206136173
Gene: F5 HGNC NCBI

Linked Data

dbSNP Id: rs1659573641
gnomAD v3: 1-169530657-A-G
gnomAD v4: 1-169530657-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169530657A>G , CM000663.2:g.169530657A>G GRCh38
NC_000001.10:g.169499895A>G , CM000663.1:g.169499895A>G GRCh37
NC_000001.9:g.167766519A>G NCBI36
NG_011806.1:g.60875T>C , LRG_553:g.60875T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367797.9:c.5208+129T>C MANE Select ENSP00000356771.3:n.5208+129T>C
ENST00000367796.3:c.5223+129T>C ENSP00000356770.3:n.5223+129T>C
ENST00000367797.7:c.5208+129T>C ENSP00000356771.3:n.5208+129T>C
NM_000130.4:c.5208+129T>C , LRG_553t1:c.5208+129T>C NP_000121.2:n.5208+129T>C
XM_017000660.2:c.4797+129T>C XP_016856149.1:n.4797+129T>C
NM_000130.5:c.5208+129T>C MANE Select NP_000121.2:n.5208+129T>C
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