Canonical Allele Identifier: CA434460858

Gene: PROS1

Linked Data

• dbSNP Id: rs1479405206
• gnomAD v2: 3-93615491-T-C
• gnomAD v4: 3-93896647-T-C
• MyVariant Identifiers: chr3:g.93615491T>C (hg19) ; chr3:g.93896647T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93896647T>C , CM000665.2:g.93896647T>C	GRCh38
NC_000003.11:g.93615491T>C , CM000665.1:g.93615491T>C	GRCh37
NC_000003.10:g.95098181T>C	NCBI36
NG_009813.1:g.82444A>G , LRG_572:g.82444A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.894A>G	ENSP00000330021.7:p.Glu298=
ENST00000394236.9:c.894A>G MANE Select	ENSP00000377783.3:p.Glu298=
ENST00000407433.6:c.849A>G	ENSP00000385794.2:p.Glu283=
ENST00000647936.1:c.894A>G	ENSP00000496822.1:p.Glu298=
ENST00000648381.1:n.1062A>G
ENST00000648853.1:c.852A>G	ENSP00000497262.1:p.Glu284=
ENST00000649103.1:c.993A>G	ENSP00000497962.1:n.993A>G
ENST00000650591.1:c.990A>G	ENSP00000497376.1:p.Glu330=
ENST00000394236.7:c.894A>G	ENSP00000377783.3:p.Glu298=
ENST00000407433.5:c.501A>G	ENSP00000385794.1:p.Glu167=
NM_000313.3:c.894A>G , LRG_572t1:c.894A>G	NP_000304.2:p.Glu298=
NM_001314077.1:c.990A>G , LRG_572t2:c.990A>G	NP_001301006.1:p.Glu330=
NM_000313.4:c.894A>G MANE Select	NP_000304.2:p.Glu298=
NM_001314077.2:c.990A>G	NP_001301006.1:p.Glu330=