Canonical Allele Identifier: CA353672679

Gene: PROS1

Linked Data

• dbSNP Id: rs1559932774
• gnomAD v4: 3-93896655-T-G
• COSMIC: COSM6338551
• MyVariant Identifiers: chr3:g.93615499T>G (hg19) ; chr3:g.93896655T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93896655T>G , CM000665.2:g.93896655T>G	GRCh38
NC_000003.11:g.93615499T>G , CM000665.1:g.93615499T>G	GRCh37
NC_000003.10:g.95098189T>G	NCBI36
NG_009813.1:g.82436A>C , LRG_572:g.82436A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.886A>C	ENSP00000330021.7:p.Lys296Gln
ENST00000394236.9:c.886A>C MANE Select	ENSP00000377783.3:p.Lys296Gln
ENST00000407433.6:c.841A>C	ENSP00000385794.2:p.Lys281Gln
ENST00000647936.1:c.886A>C	ENSP00000496822.1:p.Lys296Gln
ENST00000648381.1:n.1054A>C
ENST00000648853.1:c.844A>C	ENSP00000497262.1:p.Lys282Gln
ENST00000649103.1:c.985A>C	ENSP00000497962.1:n.985A>C
ENST00000650591.1:c.982A>C	ENSP00000497376.1:p.Lys328Gln
ENST00000394236.7:c.886A>C	ENSP00000377783.3:p.Lys296Gln
ENST00000407433.5:c.493A>C	ENSP00000385794.1:p.Lys165Gln
NM_000313.3:c.886A>C , LRG_572t1:c.886A>C	NP_000304.2:p.Lys296Gln
NM_001314077.1:c.982A>C , LRG_572t2:c.982A>C	NP_001301006.1:p.Lys328Gln
NM_000313.4:c.886A>C MANE Select	NP_000304.2:p.Lys296Gln
NM_001314077.2:c.982A>C	NP_001301006.1:p.Lys328Gln