Canonical Allele Identifier: CA1233961
Gene: F5 HGNC NCBI

Linked Data

ClinVar Variation Id: 716054
ClinVar RCV Id: RCV000888626 RCV002505262 RCV002539380 RCV003596649
dbSNP Id: rs149026031
ExAC: 1:169511166 T / G
gnomAD v2: 1-169511166-T-G
gnomAD v3: 1-169541928-T-G
gnomAD v4: 1-169541928-T-G
MyVariant Identifiers: chr1:g.169511166T>G (hg19) chr1:g.169541928T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169541928T>G , CM000663.2:g.169541928T>G GRCh38
NC_000001.10:g.169511166T>G , CM000663.1:g.169511166T>G GRCh37
NC_000001.9:g.167777790T>G NCBI36
NG_011806.1:g.49604A>C , LRG_553:g.49604A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000367797.9:c.3162A>C MANE Select ENSP00000356771.3:p.Glu1054Asp
ENST00000367796.3:c.3177A>C ENSP00000356770.3:p.Glu1059Asp
ENST00000367797.7:c.3162A>C ENSP00000356771.3:p.Glu1054Asp
NM_000130.4:c.3162A>C , LRG_553t1:c.3162A>C NP_000121.2:p.Glu1054Asp
XM_017000660.2:c.2751A>C XP_016856149.1:p.Glu917Asp
NM_000130.5:c.3162A>C MANE Select NP_000121.2:p.Glu1054Asp
Search 100 bp 5'
Search 100 bp 3'