Canonical Allele Identifier: CA353672760

Gene: PROS1

Linked Data

• ClinVar Variation Id: 2842270
• ClinVar RCV Id: RCV003644124
• MyVariant Identifiers: chr3:g.93617290A>C (hg19) ; chr3:g.93898446A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93898446A>C , CM000665.2:g.93898446A>C	GRCh38
NC_000003.11:g.93617290A>C , CM000665.1:g.93617290A>C	GRCh37
NC_000003.10:g.95099980A>C	NCBI36
NG_009813.1:g.80645T>G , LRG_572:g.80645T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.849+2T>G	ENSP00000330021.7:n.849+2T>G
ENST00000394236.9:c.849+2T>G MANE Select	ENSP00000377783.3:n.849+2T>G
ENST00000407433.6:c.804+2T>G	ENSP00000385794.2:n.804+2T>G
ENST00000647936.1:c.849+2T>G	ENSP00000496822.1:n.849+2T>G
ENST00000648381.1:n.1017+2T>G
ENST00000648853.1:c.807+2T>G	ENSP00000497262.1:n.807+2T>G
ENST00000649103.1:c.948+2T>G	ENSP00000497962.1:n.948+2T>G
ENST00000650591.1:c.945+2T>G	ENSP00000497376.1:n.945+2T>G
ENST00000394236.7:c.849+2T>G	ENSP00000377783.3:n.849+2T>G
ENST00000407433.5:c.456+2T>G	ENSP00000385794.1:n.456+2T>G
NM_000313.3:c.849+2T>G , LRG_572t1:c.849+2T>G	NP_000304.2:n.849+2T>G
NM_001314077.1:c.945+2T>G , LRG_572t2:c.945+2T>G	NP_001301006.1:n.945+2T>G
NM_000313.4:c.849+2T>G MANE Select	NP_000304.2:n.849+2T>G
NM_001314077.2:c.945+2T>G	NP_001301006.1:n.945+2T>G