Canonical Allele Identifier: CA123037

Gene: PROS1

Linked Data

• ClinVar Variation Id: 13323
• ClinVar RCV Id: RCV000014251 ; RCV000851712
• dbSNP Id: rs121918476
• MyVariant Identifiers: chr3:g.93595999G>C (hg19) ; chr3:g.93877155G>C (hg38)
• PubMed: PMID:10447256

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93877155G>C , CM000665.2:g.93877155G>C	GRCh38
NC_000003.11:g.93595999G>C , CM000665.1:g.93595999G>C	GRCh37
NC_000003.10:g.95078689G>C	NCBI36
NG_009813.1:g.101936C>G , LRG_572:g.101936C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000348974.5:c.1681C>G	ENSP00000330021.7:p.Arg561Gly
ENST00000394236.9:c.1681C>G MANE Select	ENSP00000377783.3:p.Arg561Gly
ENST00000407433.6:c.1636C>G	ENSP00000385794.2:p.Arg546Gly
ENST00000647936.1:c.1644+2008C>G	ENSP00000496822.1:n.1644+2008C>G
ENST00000648381.1:n.1849C>G
ENST00000648853.1:c.1639C>G	ENSP00000497262.1:p.Arg547Gly
ENST00000649103.1:c.1780C>G	ENSP00000497962.1:n.1780C>G
ENST00000649585.1:c.624C>G	ENSP00000498163.1:n.624C>G
ENST00000650591.1:c.1777C>G	ENSP00000497376.1:p.Arg593Gly
ENST00000394236.7:c.1681C>G	ENSP00000377783.3:p.Arg561Gly
ENST00000407433.5:c.1288C>G	ENSP00000385794.1:p.Arg430Gly
NM_000313.3:c.1681C>G , LRG_572t1:c.1681C>G	NP_000304.2:p.Arg561Gly
NM_001314077.1:c.1777C>G , LRG_572t2:c.1777C>G	NP_001301006.1:p.Arg593Gly
NM_000313.4:c.1681C>G MANE Select	NP_000304.2:p.Arg561Gly
NM_001314077.2:c.1777C>G	NP_001301006.1:p.Arg593Gly