Canonical Allele Identifier: CA434461251

Gene: PROS1

Linked Data

• ClinVar Variation Id: 2682839
• ClinVar RCV Id: RCV003481706
• dbSNP Id: rs767767470
• MyVariant Identifiers: chr3:g.93617292C>T (hg19) ; chr3:g.93898448C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93898448C>T , CM000665.2:g.93898448C>T	GRCh38
NC_000003.11:g.93617292C>T , CM000665.1:g.93617292C>T	GRCh37
NC_000003.10:g.95099982C>T	NCBI36
NG_009813.1:g.80643G>A , LRG_572:g.80643G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.849G>A	ENSP00000330021.7:p.Glu283=
ENST00000394236.9:c.849G>A MANE Select	ENSP00000377783.3:p.Glu283=
ENST00000407433.6:c.804G>A	ENSP00000385794.2:p.Glu268=
ENST00000647936.1:c.849G>A	ENSP00000496822.1:p.Glu283=
ENST00000648381.1:n.1017G>A
ENST00000648853.1:c.807G>A	ENSP00000497262.1:p.Glu269=
ENST00000649103.1:c.948G>A	ENSP00000497962.1:n.948G>A
ENST00000650591.1:c.945G>A	ENSP00000497376.1:p.Glu315=
ENST00000394236.7:c.849G>A	ENSP00000377783.3:p.Glu283=
ENST00000407433.5:c.456G>A	ENSP00000385794.1:p.Glu152=
NM_000313.3:c.849G>A , LRG_572t1:c.849G>A	NP_000304.2:p.Glu283=
NM_001314077.1:c.945G>A , LRG_572t2:c.945G>A	NP_001301006.1:p.Glu315=
NM_000313.4:c.849G>A MANE Select	NP_000304.2:p.Glu283=
NM_001314077.2:c.945G>A	NP_001301006.1:p.Glu315=