Canonical Allele Identifier: CA353674419

Gene: PROS1

Linked Data

• dbSNP Id: rs1433602733
• gnomAD v2: 3-93646104-T-A
• gnomAD v3: 3-93927260-T-A
• gnomAD v4: 3-93927260-T-A
• MyVariant Identifiers: chr3:g.93646104T>A (hg19) ; chr3:g.93927260T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93927260T>A , CM000665.2:g.93927260T>A	GRCh38
NC_000003.11:g.93646104T>A , CM000665.1:g.93646104T>A	GRCh37
NC_000003.10:g.95128794T>A	NCBI36
NG_009813.1:g.51831A>T , LRG_572:g.51831A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.224A>T	ENSP00000330021.7:p.Asp75Val
ENST00000394236.9:c.224A>T MANE Select	ENSP00000377783.3:p.Asp75Val
ENST00000407433.6:c.224A>T	ENSP00000385794.2:p.Asp75Val
ENST00000472684.2:c.-170A>T	ENSP00000419616.2:n.-170A>T
ENST00000647936.1:c.224A>T	ENSP00000496822.1:p.Asp75Val
ENST00000648381.1:n.392A>T
ENST00000648853.1:c.182A>T	ENSP00000497262.1:p.Asp61Val
ENST00000649103.1:c.203A>T	ENSP00000497962.1:p.Asp68Val
ENST00000650591.1:c.320A>T	ENSP00000497376.1:p.Asp107Val
ENST00000348974.4:c.320A>T	ENSP00000330021.6:p.Asp107Val
ENST00000394236.7:c.224A>T	ENSP00000377783.3:p.Asp75Val
ENST00000407433.5:c.-170A>T	ENSP00000385794.1:n.-170A>T
ENST00000472684.1:c.-170A>T	ENSP00000419616.1:n.-170A>T
NM_000313.3:c.224A>T , LRG_572t1:c.224A>T	NP_000304.2:p.Asp75Val
NM_001314077.1:c.320A>T , LRG_572t2:c.320A>T	NP_001301006.1:p.Asp107Val
NM_000313.4:c.224A>T MANE Select	NP_000304.2:p.Asp75Val
NM_001314077.2:c.320A>T	NP_001301006.1:p.Asp107Val