Canonical Allele Identifier: CA2503392

Gene: PROS1

Linked Data

• dbSNP Id: rs768119893
• ExAC: 3:93619607 C / T
• gnomAD v2: 3-93619607-C-T
• gnomAD v4: 3-93900763-C-T
• MyVariant Identifiers: chr3:g.93619607C>T (hg19) ; chr3:g.93900763C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93900763C>T , CM000665.2:g.93900763C>T	GRCh38
NC_000003.11:g.93619607C>T , CM000665.1:g.93619607C>T	GRCh37
NC_000003.10:g.95102297C>T	NCBI36
NG_009813.1:g.78328G>A , LRG_572:g.78328G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.727+41G>A	ENSP00000330021.7:n.727+41G>A
ENST00000394236.9:c.727+41G>A MANE Select	ENSP00000377783.3:n.727+41G>A
ENST00000407433.6:c.682+41G>A	ENSP00000385794.2:n.682+41G>A
ENST00000647936.1:c.727+41G>A	ENSP00000496822.1:n.727+41G>A
ENST00000648381.1:n.895+41G>A
ENST00000648853.1:c.685+41G>A	ENSP00000497262.1:n.685+41G>A
ENST00000649103.1:c.826+41G>A	ENSP00000497962.1:n.826+41G>A
ENST00000650591.1:c.823+41G>A	ENSP00000497376.1:n.823+41G>A
ENST00000394236.7:c.727+41G>A	ENSP00000377783.3:n.727+41G>A
ENST00000407433.5:c.334+41G>A	ENSP00000385794.1:n.334+41G>A
NM_000313.3:c.727+41G>A , LRG_572t1:c.727+41G>A	NP_000304.2:n.727+41G>A
NM_001314077.1:c.823+41G>A , LRG_572t2:c.823+41G>A	NP_001301006.1:n.823+41G>A
NM_000313.4:c.727+41G>A MANE Select	NP_000304.2:n.727+41G>A
NM_001314077.2:c.823+41G>A	NP_001301006.1:n.823+41G>A