Canonical Allele Identifier: CA1233959
Gene: F5 HGNC NCBI

Linked Data

dbSNP Id: rs772368850
ExAC: 1:169511155 G / A
gnomAD v2: 1-169511155-G-A
gnomAD v3: 1-169541917-G-A
gnomAD v4: 1-169541917-G-A
MyVariant Identifiers: chr1:g.169511155G>A (hg19) chr1:g.169541917G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169541917G>A , CM000663.2:g.169541917G>A GRCh38
NC_000001.10:g.169511155G>A , CM000663.1:g.169511155G>A GRCh37
NC_000001.9:g.167777779G>A NCBI36
NG_011806.1:g.49615C>T , LRG_553:g.49615C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367797.9:c.3173C>T MANE Select ENSP00000356771.3:p.Thr1058Ile
ENST00000367796.3:c.3188C>T ENSP00000356770.3:p.Thr1063Ile
ENST00000367797.7:c.3173C>T ENSP00000356771.3:p.Thr1058Ile
NM_000130.4:c.3173C>T , LRG_553t1:c.3173C>T NP_000121.2:p.Thr1058Ile
XM_017000660.2:c.2762C>T XP_016856149.1:p.Thr921Ile
NM_000130.5:c.3173C>T MANE Select NP_000121.2:p.Thr1058Ile
Search 100 bp 5'
Search 100 bp 3'