Canonical Allele Identifier: CA211739

Gene: PROS1

Linked Data

• ClinVar Variation Id: 161345
• ClinVar RCV Id: RCV000148751
• dbSNP Id: rs373983977
• ExAC: 3:93615439 G / A
• gnomAD v2: 3-93615439-G-A
• gnomAD v3: 3-93896595-G-A
• gnomAD v4: 3-93896595-G-A
• COSMIC: COSM731445
• MyVariant Identifiers: chr3:g.93615439G>A (hg19) ; chr3:g.93615439_93615447delinsAAAATTTTA (hg19) ; chr3:g.93896595G>A (hg38) ; chr3:g.93896595_93896603delinsAAAATTTTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93896595G>A , CM000665.2:g.93896595G>A	GRCh38
NC_000003.11:g.93615439G>A , CM000665.1:g.93615439G>A	GRCh37
NC_000003.10:g.95098129G>A	NCBI36
NG_009813.1:g.82496C>T , LRG_572:g.82496C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.946C>T	ENSP00000330021.7:p.Arg316Cys
ENST00000394236.9:c.946C>T MANE Select	ENSP00000377783.3:p.Arg316Cys
ENST00000407433.6:c.901C>T	ENSP00000385794.2:p.Arg301Cys
ENST00000647936.1:c.946C>T	ENSP00000496822.1:p.Arg316Cys
ENST00000648381.1:n.1114C>T
ENST00000648853.1:c.904C>T	ENSP00000497262.1:p.Arg302Cys
ENST00000649103.1:c.1045C>T	ENSP00000497962.1:n.1045C>T
ENST00000650591.1:c.1042C>T	ENSP00000497376.1:p.Arg348Cys
ENST00000394236.7:c.946C>T	ENSP00000377783.3:p.Arg316Cys
ENST00000407433.5:c.553C>T	ENSP00000385794.1:p.Arg185Cys
NM_000313.3:c.946C>T , LRG_572t1:c.946C>T	NP_000304.2:p.Arg316Cys
NM_001314077.1:c.1042C>T , LRG_572t2:c.1042C>T	NP_001301006.1:p.Arg348Cys
NM_000313.4:c.946C>T MANE Select	NP_000304.2:p.Arg316Cys
NM_001314077.2:c.1042C>T	NP_001301006.1:p.Arg348Cys