Canonical Allele Identifier: CA211751

Gene: PROS1

Linked Data

• ClinVar Variation Id: 161353
• ClinVar RCV Id: RCV000148759
• dbSNP Id: rs370855515
• ExAC: 3:93619699 A / T
• gnomAD v2: 3-93619699-A-T
• gnomAD v4: 3-93900855-A-T
• MyVariant Identifiers: chr3:g.93619699A>T (hg19) ; chr3:g.93900855A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93900855A>T , CM000665.2:g.93900855A>T	GRCh38
NC_000003.11:g.93619699A>T , CM000665.1:g.93619699A>T	GRCh37
NC_000003.10:g.95102389A>T	NCBI36
NG_009813.1:g.78236T>A , LRG_572:g.78236T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.676T>A	ENSP00000330021.7:p.Cys226Ser
ENST00000394236.9:c.676T>A MANE Select	ENSP00000377783.3:p.Cys226Ser
ENST00000407433.6:c.631T>A	ENSP00000385794.2:p.Cys211Ser
ENST00000647936.1:c.676T>A	ENSP00000496822.1:p.Cys226Ser
ENST00000648381.1:n.844T>A
ENST00000648853.1:c.634T>A	ENSP00000497262.1:p.Cys212Ser
ENST00000649103.1:c.775T>A	ENSP00000497962.1:n.775T>A
ENST00000650591.1:c.772T>A	ENSP00000497376.1:p.Cys258Ser
ENST00000394236.7:c.676T>A	ENSP00000377783.3:p.Cys226Ser
ENST00000407433.5:c.283T>A	ENSP00000385794.1:p.Cys95Ser
NM_000313.3:c.676T>A , LRG_572t1:c.676T>A	NP_000304.2:p.Cys226Ser
NM_001314077.1:c.772T>A , LRG_572t2:c.772T>A	NP_001301006.1:p.Cys258Ser
NM_000313.4:c.676T>A MANE Select	NP_000304.2:p.Cys226Ser
NM_001314077.2:c.772T>A	NP_001301006.1:p.Cys258Ser