Canonical Allele Identifier: CA2503056

Gene: PROS1

Linked Data

• dbSNP Id: rs749281590
• ExAC: 3:93593112 A / T
• gnomAD v2: 3-93593112-A-T
• MyVariant Identifiers: chr3:g.93593112A>T (hg19) ; chr3:g.93874268A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93874268A>T , CM000665.2:g.93874268A>T	GRCh38
NC_000003.11:g.93593112A>T , CM000665.1:g.93593112A>T	GRCh37
NC_000003.10:g.95075802A>T	NCBI36
NG_009813.1:g.104823T>A , LRG_572:g.104823T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.2008T>A	ENSP00000330021.7:p.Trp670Arg
ENST00000394236.9:c.2008T>A MANE Select	ENSP00000377783.3:p.Trp670Arg
ENST00000407433.6:c.1963T>A	ENSP00000385794.2:p.Trp655Arg
ENST00000647936.1:c.*111T>A	ENSP00000496822.1:n.*111T>A
ENST00000648381.1:n.2176T>A
ENST00000648853.1:c.1966T>A	ENSP00000497262.1:p.Trp656Arg
ENST00000650591.1:c.2104T>A	ENSP00000497376.1:p.Trp702Arg
ENST00000394236.7:c.2008T>A	ENSP00000377783.3:p.Trp670Arg
ENST00000407433.5:c.1615T>A	ENSP00000385794.1:p.Trp539Arg
NM_000313.3:c.2008T>A , LRG_572t1:c.2008T>A	NP_000304.2:p.Trp670Arg
NM_001314077.1:c.2104T>A , LRG_572t2:c.2104T>A	NP_001301006.1:p.Trp702Arg
NM_000313.4:c.2008T>A MANE Select	NP_000304.2:p.Trp670Arg
NM_001314077.2:c.2104T>A	NP_001301006.1:p.Trp702Arg