Canonical Allele Identifier: CA421930495
Gene: F5 HGNC NCBI

Linked Data

dbSNP Id: rs1185885904
gnomAD v2: 1-169510941-T-C
gnomAD v3: 1-169541703-T-C
gnomAD v4: 1-169541703-T-C
MyVariant Identifiers: chr1:g.169510941T>C (hg19) chr1:g.169541703T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169541703T>C , CM000663.2:g.169541703T>C GRCh38
NC_000001.10:g.169510941T>C , CM000663.1:g.169510941T>C GRCh37
NC_000001.9:g.167777565T>C NCBI36
NG_011806.1:g.49829A>G , LRG_553:g.49829A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000367797.9:c.3387A>G MANE Select ENSP00000356771.3:p.Thr1129=
ENST00000367796.3:c.3402A>G ENSP00000356770.3:p.Thr1134=
ENST00000367797.7:c.3387A>G ENSP00000356771.3:p.Thr1129=
NM_000130.4:c.3387A>G , LRG_553t1:c.3387A>G NP_000121.2:p.Thr1129=
XM_017000660.2:c.2976A>G XP_016856149.1:p.Thr992=
NM_000130.5:c.3387A>G MANE Select NP_000121.2:p.Thr1129=
Search 100 bp 5'
Search 100 bp 3'