Canonical Allele Identifier: CA78522129

Gene: PROS1

Linked Data

• dbSNP Id: rs779137762
• gnomAD v4: 3-93879262-A-G
• MyVariant Identifiers: chr3:g.93598106A>G (hg19) ; chr3:g.93879262A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93879262A>G , CM000665.2:g.93879262A>G	GRCh38
NC_000003.11:g.93598106A>G , CM000665.1:g.93598106A>G	GRCh37
NC_000003.10:g.95080796A>G	NCBI36
NG_009813.1:g.99829T>C , LRG_572:g.99829T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.1545T>C	ENSP00000330021.7:p.Arg515=
ENST00000394236.9:c.1545T>C MANE Select	ENSP00000377783.3:p.Arg515=
ENST00000407433.6:c.1500T>C	ENSP00000385794.2:p.Arg500=
ENST00000647936.1:c.1545T>C	ENSP00000496822.1:p.Arg515=
ENST00000648381.1:n.1713T>C
ENST00000648853.1:c.1503T>C	ENSP00000497262.1:p.Arg501=
ENST00000649103.1:c.1644T>C	ENSP00000497962.1:n.1644T>C
ENST00000649585.1:c.488T>C	ENSP00000498163.1:n.488T>C
ENST00000650591.1:c.1641T>C	ENSP00000497376.1:p.Arg547=
ENST00000394236.7:c.1545T>C	ENSP00000377783.3:p.Arg515=
ENST00000407433.5:c.1152T>C	ENSP00000385794.1:p.Arg384=
NM_000313.3:c.1545T>C , LRG_572t1:c.1545T>C	NP_000304.2:p.Arg515=
NM_001314077.1:c.1641T>C , LRG_572t2:c.1641T>C	NP_001301006.1:p.Arg547=
NM_000313.4:c.1545T>C MANE Select	NP_000304.2:p.Arg515=
NM_001314077.2:c.1641T>C	NP_001301006.1:p.Arg547=