Canonical Allele Identifier: CA434463086

Gene: PROS1

Linked Data

• dbSNP Id: rs1481122863
• gnomAD v4: 3-93877048-G-A
• COSMIC: COSM3945747
• MyVariant Identifiers: chr3:g.93595892G>A (hg19) ; chr3:g.93877048G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93877048G>A , CM000665.2:g.93877048G>A	GRCh38
NC_000003.11:g.93595892G>A , CM000665.1:g.93595892G>A	GRCh37
NC_000003.10:g.95078582G>A	NCBI36
NG_009813.1:g.102043C>T , LRG_572:g.102043C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.1788C>T	ENSP00000330021.7:p.Ser596=
ENST00000394236.9:c.1788C>T MANE Select	ENSP00000377783.3:p.Ser596=
ENST00000407433.6:c.1743C>T	ENSP00000385794.2:p.Ser581=
ENST00000647936.1:c.1644+2115C>T	ENSP00000496822.1:n.1644+2115C>T
ENST00000648381.1:n.1956C>T
ENST00000648853.1:c.1746C>T	ENSP00000497262.1:p.Ser582=
ENST00000649585.1:c.731C>T	ENSP00000498163.1:n.731C>T
ENST00000650591.1:c.1884C>T	ENSP00000497376.1:p.Ser628=
ENST00000394236.7:c.1788C>T	ENSP00000377783.3:p.Ser596=
ENST00000407433.5:c.1395C>T	ENSP00000385794.1:p.Ser465=
NM_000313.3:c.1788C>T , LRG_572t1:c.1788C>T	NP_000304.2:p.Ser596=
NM_001314077.1:c.1884C>T , LRG_572t2:c.1884C>T	NP_001301006.1:p.Ser628=
NM_000313.4:c.1788C>T MANE Select	NP_000304.2:p.Ser596=
NM_001314077.2:c.1884C>T	NP_001301006.1:p.Ser628=