Canonical Allele Identifier: CA353671653

Gene: PROS1

Linked Data

• dbSNP Id: rs1396452003
• gnomAD v2: 3-93598017-T-C
• gnomAD v4: 3-93879173-T-C
• COSMIC: COSM32389
• MyVariant Identifiers: chr3:g.93598017T>C (hg19) ; chr3:g.93879173T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93879173T>C , CM000665.2:g.93879173T>C	GRCh38
NC_000003.11:g.93598017T>C , CM000665.1:g.93598017T>C	GRCh37
NC_000003.10:g.95080707T>C	NCBI36
NG_009813.1:g.99918A>G , LRG_572:g.99918A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.1634A>G	ENSP00000330021.7:p.Glu545Gly
ENST00000394236.9:c.1634A>G MANE Select	ENSP00000377783.3:p.Glu545Gly
ENST00000407433.6:c.1589A>G	ENSP00000385794.2:p.Glu530Gly
ENST00000647936.1:c.1634A>G	ENSP00000496822.1:p.Glu545Gly
ENST00000648381.1:n.1802A>G
ENST00000648853.1:c.1592A>G	ENSP00000497262.1:p.Glu531Gly
ENST00000649103.1:c.1733A>G	ENSP00000497962.1:n.1733A>G
ENST00000649585.1:c.577A>G	ENSP00000498163.1:n.577A>G
ENST00000650591.1:c.1730A>G	ENSP00000497376.1:p.Glu577Gly
ENST00000394236.7:c.1634A>G	ENSP00000377783.3:p.Glu545Gly
ENST00000407433.5:c.1241A>G	ENSP00000385794.1:p.Glu414Gly
NM_000313.3:c.1634A>G , LRG_572t1:c.1634A>G	NP_000304.2:p.Glu545Gly
NM_001314077.1:c.1730A>G , LRG_572t2:c.1730A>G	NP_001301006.1:p.Glu577Gly
NM_000313.4:c.1634A>G MANE Select	NP_000304.2:p.Glu545Gly
NM_001314077.2:c.1730A>G	NP_001301006.1:p.Glu577Gly