Canonical Allele Identifier: CA353673142

Gene: PROS1

Linked Data

• dbSNP Id: rs1559933915
• gnomAD v4: 3-93900839-C-T
• MyVariant Identifiers: chr3:g.93619683C>T (hg19) ; chr3:g.93900839C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93900839C>T , CM000665.2:g.93900839C>T	GRCh38
NC_000003.11:g.93619683C>T , CM000665.1:g.93619683C>T	GRCh37
NC_000003.10:g.95102373C>T	NCBI36
NG_009813.1:g.78252G>A , LRG_572:g.78252G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000348974.5:c.692G>A	ENSP00000330021.7:p.Gly231Asp
ENST00000394236.9:c.692G>A MANE Select	ENSP00000377783.3:p.Gly231Asp
ENST00000407433.6:c.647G>A	ENSP00000385794.2:p.Gly216Asp
ENST00000647936.1:c.692G>A	ENSP00000496822.1:p.Gly231Asp
ENST00000648381.1:n.860G>A
ENST00000648853.1:c.650G>A	ENSP00000497262.1:p.Gly217Asp
ENST00000649103.1:c.791G>A	ENSP00000497962.1:n.791G>A
ENST00000650591.1:c.788G>A	ENSP00000497376.1:p.Gly263Asp
ENST00000394236.7:c.692G>A	ENSP00000377783.3:p.Gly231Asp
ENST00000407433.5:c.299G>A	ENSP00000385794.1:p.Gly100Asp
NM_000313.3:c.692G>A , LRG_572t1:c.692G>A	NP_000304.2:p.Gly231Asp
NM_001314077.1:c.788G>A , LRG_572t2:c.788G>A	NP_001301006.1:p.Gly263Asp
NM_000313.4:c.692G>A MANE Select	NP_000304.2:p.Gly231Asp
NM_001314077.2:c.788G>A	NP_001301006.1:p.Gly263Asp