Canonical Allele Identifier: CA353669650

Gene: PROS1

Linked Data

• dbSNP Id: rs1227588380
• MyVariant Identifiers: chr3:g.93593159G>A (hg19) ; chr3:g.93874315G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93874315G>A , CM000665.2:g.93874315G>A	GRCh38
NC_000003.11:g.93593159G>A , CM000665.1:g.93593159G>A	GRCh37
NC_000003.10:g.95075849G>A	NCBI36
NG_009813.1:g.104776C>T , LRG_572:g.104776C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.1961C>T	ENSP00000330021.7:p.Ala654Val
ENST00000394236.9:c.1961C>T MANE Select	ENSP00000377783.3:p.Ala654Val
ENST00000407433.6:c.1916C>T	ENSP00000385794.2:p.Ala639Val
ENST00000647936.1:c.*64C>T	ENSP00000496822.1:n.*64C>T
ENST00000648381.1:n.2129C>T
ENST00000648853.1:c.1919C>T	ENSP00000497262.1:p.Ala640Val
ENST00000650591.1:c.2057C>T	ENSP00000497376.1:p.Ala686Val
ENST00000394236.7:c.1961C>T	ENSP00000377783.3:p.Ala654Val
ENST00000407433.5:c.1568C>T	ENSP00000385794.1:p.Ala523Val
NM_000313.3:c.1961C>T , LRG_572t1:c.1961C>T	NP_000304.2:p.Ala654Val
NM_001314077.1:c.2057C>T , LRG_572t2:c.2057C>T	NP_001301006.1:p.Ala686Val
NM_000313.4:c.1961C>T MANE Select	NP_000304.2:p.Ala654Val
NM_001314077.2:c.2057C>T	NP_001301006.1:p.Ala686Val