Canonical Allele Identifier: CA2503389

Gene: PROS1

Linked Data

• dbSNP Id: rs186173872
• ExAC: 3:93619598 G / T
• gnomAD v2: 3-93619598-G-T
• gnomAD v3: 3-93900754-G-T
• gnomAD v4: 3-93900754-G-T
• MyVariant Identifiers: chr3:g.93619598G>T (hg19) ; chr3:g.93900754G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93900754G>T , CM000665.2:g.93900754G>T	GRCh38
NC_000003.11:g.93619598G>T , CM000665.1:g.93619598G>T	GRCh37
NC_000003.10:g.95102288G>T	NCBI36
NG_009813.1:g.78337C>A , LRG_572:g.78337C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000348974.5:c.727+50C>A	ENSP00000330021.7:n.727+50C>A
ENST00000394236.9:c.727+50C>A MANE Select	ENSP00000377783.3:n.727+50C>A
ENST00000407433.6:c.682+50C>A	ENSP00000385794.2:n.682+50C>A
ENST00000647936.1:c.727+50C>A	ENSP00000496822.1:n.727+50C>A
ENST00000648381.1:n.895+50C>A
ENST00000648853.1:c.685+50C>A	ENSP00000497262.1:n.685+50C>A
ENST00000649103.1:c.826+50C>A	ENSP00000497962.1:n.826+50C>A
ENST00000650591.1:c.823+50C>A	ENSP00000497376.1:n.823+50C>A
ENST00000394236.7:c.727+50C>A	ENSP00000377783.3:n.727+50C>A
ENST00000407433.5:c.334+50C>A	ENSP00000385794.1:n.334+50C>A
NM_000313.3:c.727+50C>A , LRG_572t1:c.727+50C>A	NP_000304.2:n.727+50C>A
NM_001314077.1:c.823+50C>A , LRG_572t2:c.823+50C>A	NP_001301006.1:n.823+50C>A
NM_000313.4:c.727+50C>A MANE Select	NP_000304.2:n.727+50C>A
NM_001314077.2:c.823+50C>A	NP_001301006.1:n.823+50C>A