Canonical Allele Identifier: CA434464428

Gene: PROS1

Linked Data

• dbSNP Id: rs1250508132
• gnomAD v2: 3-93598075-A-G
• gnomAD v4: 3-93879231-A-G
• MyVariant Identifiers: chr3:g.93598075A>G (hg19) ; chr3:g.93879231A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93879231A>G , CM000665.2:g.93879231A>G	GRCh38
NC_000003.11:g.93598075A>G , CM000665.1:g.93598075A>G	GRCh37
NC_000003.10:g.95080765A>G	NCBI36
NG_009813.1:g.99860T>C , LRG_572:g.99860T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000348974.5:c.1576T>C	ENSP00000330021.7:p.Leu526=
ENST00000394236.9:c.1576T>C MANE Select	ENSP00000377783.3:p.Leu526=
ENST00000407433.6:c.1531T>C	ENSP00000385794.2:p.Leu511=
ENST00000647936.1:c.1576T>C	ENSP00000496822.1:p.Leu526=
ENST00000648381.1:n.1744T>C
ENST00000648853.1:c.1534T>C	ENSP00000497262.1:p.Leu512=
ENST00000649103.1:c.1675T>C	ENSP00000497962.1:n.1675T>C
ENST00000649585.1:c.519T>C	ENSP00000498163.1:n.519T>C
ENST00000650591.1:c.1672T>C	ENSP00000497376.1:p.Leu558=
ENST00000394236.7:c.1576T>C	ENSP00000377783.3:p.Leu526=
ENST00000407433.5:c.1183T>C	ENSP00000385794.1:p.Leu395=
NM_000313.3:c.1576T>C , LRG_572t1:c.1576T>C	NP_000304.2:p.Leu526=
NM_001314077.1:c.1672T>C , LRG_572t2:c.1672T>C	NP_001301006.1:p.Leu558=
NM_000313.4:c.1576T>C MANE Select	NP_000304.2:p.Leu526=
NM_001314077.2:c.1672T>C	NP_001301006.1:p.Leu558=