Canonical Allele Identifier: CA2503413

Gene: PROS1

Linked Data

• ClinVar Variation Id: 346888
• ClinVar RCV Id: RCV000290013
• dbSNP Id: rs377173471
• ExAC: 3:93619691 G / A
• gnomAD v2: 3-93619691-G-A
• gnomAD v3: 3-93900847-G-A
• gnomAD v4: 3-93900847-G-A
• MyVariant Identifiers: chr3:g.93619691G>A (hg19) ; chr3:g.93900847G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93900847G>A , CM000665.2:g.93900847G>A	GRCh38
NC_000003.11:g.93619691G>A , CM000665.1:g.93619691G>A	GRCh37
NC_000003.10:g.95102381G>A	NCBI36
NG_009813.1:g.78244C>T , LRG_572:g.78244C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000348974.5:c.684C>T	ENSP00000330021.7:p.Cys228=
ENST00000394236.9:c.684C>T MANE Select	ENSP00000377783.3:p.Cys228=
ENST00000407433.6:c.639C>T	ENSP00000385794.2:p.Cys213=
ENST00000647936.1:c.684C>T	ENSP00000496822.1:p.Cys228=
ENST00000648381.1:n.852C>T
ENST00000648853.1:c.642C>T	ENSP00000497262.1:p.Cys214=
ENST00000649103.1:c.783C>T	ENSP00000497962.1:n.783C>T
ENST00000650591.1:c.780C>T	ENSP00000497376.1:p.Cys260=
ENST00000394236.7:c.684C>T	ENSP00000377783.3:p.Cys228=
ENST00000407433.5:c.291C>T	ENSP00000385794.1:p.Cys97=
NM_000313.3:c.684C>T , LRG_572t1:c.684C>T	NP_000304.2:p.Cys228=
NM_001314077.1:c.780C>T , LRG_572t2:c.780C>T	NP_001301006.1:p.Cys260=
NM_000313.4:c.684C>T MANE Select	NP_000304.2:p.Cys228=
NM_001314077.2:c.780C>T	NP_001301006.1:p.Cys260=