Canonical Allele Identifier: CA2503453

Gene: PROS1

Linked Data

• ClinVar Variation Id: 1435151
• ClinVar RCV Id: RCV001984812
• dbSNP Id: rs779391826
• ExAC: 3:93624672 C / T
• gnomAD v2: 3-93624672-C-T
• gnomAD v3: 3-93905828-C-T
• gnomAD v4: 3-93905828-C-T
• COSMIC: COSM1581546
• MyVariant Identifiers: chr3:g.93624672C>T (hg19) ; chr3:g.93905828C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93905828C>T , CM000665.2:g.93905828C>T	GRCh38
NC_000003.11:g.93624672C>T , CM000665.1:g.93624672C>T	GRCh37
NC_000003.10:g.95107362C>T	NCBI36
NG_009813.1:g.73263G>A , LRG_572:g.73263G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.557G>A	ENSP00000330021.7:p.Cys186Tyr
ENST00000394236.9:c.557G>A MANE Select	ENSP00000377783.3:p.Cys186Tyr
ENST00000407433.6:c.556+1G>A	ENSP00000385794.2:n.556+1G>A
ENST00000472684.2:c.164G>A	ENSP00000419616.2:p.Cys55Tyr
ENST00000647936.1:c.557G>A	ENSP00000496822.1:p.Cys186Tyr
ENST00000648381.1:n.725G>A
ENST00000648853.1:c.515G>A	ENSP00000497262.1:p.Cys172Tyr
ENST00000649103.1:c.656G>A	ENSP00000497962.1:n.656G>A
ENST00000650591.1:c.653G>A	ENSP00000497376.1:p.Cys218Tyr
ENST00000348974.4:c.653G>A	ENSP00000330021.6:p.Cys218Tyr
ENST00000394236.7:c.557G>A	ENSP00000377783.3:p.Cys186Tyr
ENST00000407433.5:c.164G>A	ENSP00000385794.1:p.Cys55Tyr
ENST00000472684.1:c.164G>A	ENSP00000419616.1:p.Cys55Tyr
NM_000313.3:c.557G>A , LRG_572t1:c.557G>A	NP_000304.2:p.Cys186Tyr
NM_001314077.1:c.653G>A , LRG_572t2:c.653G>A	NP_001301006.1:p.Cys218Tyr
NM_000313.4:c.557G>A MANE Select	NP_000304.2:p.Cys186Tyr
NM_001314077.2:c.653G>A	NP_001301006.1:p.Cys218Tyr