Canonical Allele Identifier: CA353669785

Gene: PROS1

Linked Data

• ClinVar Variation Id: 1371590
• ClinVar RCV Id: RCV001879071
• dbSNP Id: rs776022988
• COSMIC: COSM5615325
• MyVariant Identifiers: chr3:g.93593184C>A (hg19) ; chr3:g.93874340C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93874340C>A , CM000665.2:g.93874340C>A	GRCh38
NC_000003.11:g.93593184C>A , CM000665.1:g.93593184C>A	GRCh37
NC_000003.10:g.95075874C>A	NCBI36
NG_009813.1:g.104751G>T , LRG_572:g.104751G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.1936G>T	ENSP00000330021.7:p.Gly646Cys
ENST00000394236.9:c.1936G>T MANE Select	ENSP00000377783.3:p.Gly646Cys
ENST00000407433.6:c.1891G>T	ENSP00000385794.2:p.Gly631Cys
ENST00000647936.1:c.*39G>T	ENSP00000496822.1:n.*39G>T
ENST00000648381.1:n.2104G>T
ENST00000648853.1:c.1894G>T	ENSP00000497262.1:p.Gly632Cys
ENST00000650591.1:c.2032G>T	ENSP00000497376.1:p.Gly678Cys
ENST00000394236.7:c.1936G>T	ENSP00000377783.3:p.Gly646Cys
ENST00000407433.5:c.1543G>T	ENSP00000385794.1:p.Gly515Cys
NM_000313.3:c.1936G>T , LRG_572t1:c.1936G>T	NP_000304.2:p.Gly646Cys
NM_001314077.1:c.2032G>T , LRG_572t2:c.2032G>T	NP_001301006.1:p.Gly678Cys
NM_000313.4:c.1936G>T MANE Select	NP_000304.2:p.Gly646Cys
NM_001314077.2:c.2032G>T	NP_001301006.1:p.Gly678Cys