Canonical Allele Identifier: CA353672788

Gene: PROS1

Linked Data

• dbSNP Id: rs1559933189
• gnomAD v2: 3-93617301-C-A
• gnomAD v3: 3-93898457-C-A
• gnomAD v4: 3-93898457-C-A
• MyVariant Identifiers: chr3:g.93617301C>A (hg19) ; chr3:g.93898457C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93898457C>A , CM000665.2:g.93898457C>A	GRCh38
NC_000003.11:g.93617301C>A , CM000665.1:g.93617301C>A	GRCh37
NC_000003.10:g.95099991C>A	NCBI36
NG_009813.1:g.80634G>T , LRG_572:g.80634G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.840G>T	ENSP00000330021.7:p.Lys280Asn
ENST00000394236.9:c.840G>T MANE Select	ENSP00000377783.3:p.Lys280Asn
ENST00000407433.6:c.795G>T	ENSP00000385794.2:p.Lys265Asn
ENST00000647936.1:c.840G>T	ENSP00000496822.1:p.Lys280Asn
ENST00000648381.1:n.1008G>T
ENST00000648853.1:c.798G>T	ENSP00000497262.1:p.Lys266Asn
ENST00000649103.1:c.939G>T	ENSP00000497962.1:n.939G>T
ENST00000650591.1:c.936G>T	ENSP00000497376.1:p.Lys312Asn
ENST00000394236.7:c.840G>T	ENSP00000377783.3:p.Lys280Asn
ENST00000407433.5:c.447G>T	ENSP00000385794.1:p.Lys149Asn
NM_000313.3:c.840G>T , LRG_572t1:c.840G>T	NP_000304.2:p.Lys280Asn
NM_001314077.1:c.936G>T , LRG_572t2:c.936G>T	NP_001301006.1:p.Lys312Asn
NM_000313.4:c.840G>T MANE Select	NP_000304.2:p.Lys280Asn
NM_001314077.2:c.936G>T	NP_001301006.1:p.Lys312Asn