Canonical Allele Identifier: CA353669469

Gene: PROS1

Linked Data

• ClinVar Variation Id: 567962
• ClinVar RCV Id: RCV000688177
• dbSNP Id: rs1559926604
• MyVariant Identifiers: chr3:g.93593122A>T (hg19) ; chr3:g.93874278A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93874278A>T , CM000665.2:g.93874278A>T	GRCh38
NC_000003.11:g.93593122A>T , CM000665.1:g.93593122A>T	GRCh37
NC_000003.10:g.95075812A>T	NCBI36
NG_009813.1:g.104813T>A , LRG_572:g.104813T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.1998T>A	ENSP00000330021.7:p.Cys666Ter
ENST00000394236.9:c.1998T>A MANE Select	ENSP00000377783.3:p.Cys666Ter
ENST00000407433.6:c.1953T>A	ENSP00000385794.2:p.Cys651Ter
ENST00000647936.1:c.*101T>A	ENSP00000496822.1:n.*101T>A
ENST00000648381.1:n.2166T>A
ENST00000648853.1:c.1956T>A	ENSP00000497262.1:p.Cys652Ter
ENST00000650591.1:c.2094T>A	ENSP00000497376.1:p.Cys698Ter
ENST00000394236.7:c.1998T>A	ENSP00000377783.3:p.Cys666Ter
ENST00000407433.5:c.1605T>A	ENSP00000385794.1:p.Cys535Ter
NM_000313.3:c.1998T>A , LRG_572t1:c.1998T>A	NP_000304.2:p.Cys666Ter
NM_001314077.1:c.2094T>A , LRG_572t2:c.2094T>A	NP_001301006.1:p.Cys698Ter
NM_000313.4:c.1998T>A MANE Select	NP_000304.2:p.Cys666Ter
NM_001314077.2:c.2094T>A	NP_001301006.1:p.Cys698Ter