Canonical Allele Identifier: CA353673159

Gene: PROS1

Linked Data

• ClinVar Variation Id: 1676814
• ClinVar RCV Id: RCV002222310
• dbSNP Id: rs377173471
• MyVariant Identifiers: chr3:g.93619691G>T (hg19) ; chr3:g.93900847G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000348974.5:c.684C>A	ENSP00000330021.7:p.Cys228Ter
ENST00000394236.9:c.684C>A MANE Select	ENSP00000377783.3:p.Cys228Ter
ENST00000407433.6:c.639C>A	ENSP00000385794.2:p.Cys213Ter
ENST00000647936.1:c.684C>A	ENSP00000496822.1:p.Cys228Ter
ENST00000648381.1:n.852C>A
ENST00000648853.1:c.642C>A	ENSP00000497262.1:p.Cys214Ter
ENST00000649103.1:c.783C>A	ENSP00000497962.1:n.783C>A
ENST00000650591.1:c.780C>A	ENSP00000497376.1:p.Cys260Ter
ENST00000394236.7:c.684C>A	ENSP00000377783.3:p.Cys228Ter
ENST00000407433.5:c.291C>A	ENSP00000385794.1:p.Cys97Ter
NM_000313.3:c.684C>A , LRG_572t1:c.684C>A	NP_000304.2:p.Cys228Ter
NM_001314077.1:c.780C>A , LRG_572t2:c.780C>A	NP_001301006.1:p.Cys260Ter
NM_000313.4:c.684C>A MANE Select	NP_000304.2:p.Cys228Ter
NM_001314077.2:c.780C>A	NP_001301006.1:p.Cys260Ter