Canonical Allele Identifier: CA2503324

Gene: PROS1

Linked Data

• ClinVar Variation Id: 983112
• ClinVar RCV Id: RCV001262970 ; RCV002504379 ; RCV002537644
• dbSNP Id: rs747259055
• ExAC: 3:93615438 C / T
• gnomAD v2: 3-93615438-C-T
• gnomAD v3: 3-93896594-C-T
• gnomAD v4: 3-93896594-C-T
• COSMIC: COSM3597943
• MyVariant Identifiers: chr3:g.93615438C>T (hg19) ; chr3:g.93896594C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93896594C>T , CM000665.2:g.93896594C>T	GRCh38
NC_000003.11:g.93615438C>T , CM000665.1:g.93615438C>T	GRCh37
NC_000003.10:g.95098128C>T	NCBI36
NG_009813.1:g.82497G>A , LRG_572:g.82497G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.947G>A	ENSP00000330021.7:p.Arg316His
ENST00000394236.9:c.947G>A MANE Select	ENSP00000377783.3:p.Arg316His
ENST00000407433.6:c.902G>A	ENSP00000385794.2:p.Arg301His
ENST00000647936.1:c.947G>A	ENSP00000496822.1:p.Arg316His
ENST00000648381.1:n.1115G>A
ENST00000648853.1:c.905G>A	ENSP00000497262.1:p.Arg302His
ENST00000649103.1:c.1046G>A	ENSP00000497962.1:n.1046G>A
ENST00000650591.1:c.1043G>A	ENSP00000497376.1:p.Arg348His
ENST00000394236.7:c.947G>A	ENSP00000377783.3:p.Arg316His
ENST00000407433.5:c.554G>A	ENSP00000385794.1:p.Arg185His
NM_000313.3:c.947G>A , LRG_572t1:c.947G>A	NP_000304.2:p.Arg316His
NM_001314077.1:c.1043G>A , LRG_572t2:c.1043G>A	NP_001301006.1:p.Arg348His
NM_000313.4:c.947G>A MANE Select	NP_000304.2:p.Arg316His
NM_001314077.2:c.1043G>A	NP_001301006.1:p.Arg348His