Canonical Allele Identifier: CA2503572

Gene: PROS1

Linked Data

• ClinVar Variation Id: 2716034
• ClinVar RCV Id: RCV003529062
• dbSNP Id: rs6121
• ExAC: 3:93646100 C / A
• gnomAD v2: 3-93646100-C-A
• gnomAD v3: 3-93927256-C-A
• gnomAD v4: 3-93927256-C-A
• MyVariant Identifiers: chr3:g.93646100C>A (hg19) ; chr3:g.93927256C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93927256C>A , CM000665.2:g.93927256C>A	GRCh38
NC_000003.11:g.93646100C>A , CM000665.1:g.93646100C>A	GRCh37
NC_000003.10:g.95128790C>A	NCBI36
NG_009813.1:g.51835G>T , LRG_572:g.51835G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.228G>T	ENSP00000330021.7:p.Pro76=
ENST00000394236.9:c.228G>T MANE Select	ENSP00000377783.3:p.Pro76=
ENST00000407433.6:c.228G>T	ENSP00000385794.2:p.Pro76=
ENST00000472684.2:c.-166G>T	ENSP00000419616.2:n.-166G>T
ENST00000647936.1:c.228G>T	ENSP00000496822.1:p.Pro76=
ENST00000648381.1:n.396G>T
ENST00000648853.1:c.186G>T	ENSP00000497262.1:p.Pro62=
ENST00000649103.1:c.207G>T	ENSP00000497962.1:p.Pro69=
ENST00000650591.1:c.324G>T	ENSP00000497376.1:p.Pro108=
ENST00000348974.4:c.324G>T	ENSP00000330021.6:p.Pro108=
ENST00000394236.7:c.228G>T	ENSP00000377783.3:p.Pro76=
ENST00000407433.5:c.-166G>T	ENSP00000385794.1:n.-166G>T
ENST00000472684.1:c.-166G>T	ENSP00000419616.1:n.-166G>T
NM_000313.3:c.228G>T , LRG_572t1:c.228G>T	NP_000304.2:p.Pro76=
NM_001314077.1:c.324G>T , LRG_572t2:c.324G>T	NP_001301006.1:p.Pro108=
NM_000313.4:c.228G>T MANE Select	NP_000304.2:p.Pro76=
NM_001314077.2:c.324G>T	NP_001301006.1:p.Pro108=