Canonical Allele Identifier: CA2503152

Gene: PROS1

Linked Data

• dbSNP Id: rs758960496
• ExAC: 3:93598058 G / A
• gnomAD v2: 3-93598058-G-A
• MyVariant Identifiers: chr3:g.93598058G>A (hg19) ; chr3:g.93879214G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93879214G>A , CM000665.2:g.93879214G>A	GRCh38
NC_000003.11:g.93598058G>A , CM000665.1:g.93598058G>A	GRCh37
NC_000003.10:g.95080748G>A	NCBI36
NG_009813.1:g.99877C>T , LRG_572:g.99877C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.1593C>T	ENSP00000330021.7:p.Asn531=
ENST00000394236.9:c.1593C>T MANE Select	ENSP00000377783.3:p.Asn531=
ENST00000407433.6:c.1548C>T	ENSP00000385794.2:p.Asn516=
ENST00000647936.1:c.1593C>T	ENSP00000496822.1:p.Asn531=
ENST00000648381.1:n.1761C>T
ENST00000648853.1:c.1551C>T	ENSP00000497262.1:p.Asn517=
ENST00000649103.1:c.1692C>T	ENSP00000497962.1:n.1692C>T
ENST00000649585.1:c.536C>T	ENSP00000498163.1:n.536C>T
ENST00000650591.1:c.1689C>T	ENSP00000497376.1:p.Asn563=
ENST00000394236.7:c.1593C>T	ENSP00000377783.3:p.Asn531=
ENST00000407433.5:c.1200C>T	ENSP00000385794.1:p.Asn400=
NM_000313.3:c.1593C>T , LRG_572t1:c.1593C>T	NP_000304.2:p.Asn531=
NM_001314077.1:c.1689C>T , LRG_572t2:c.1689C>T	NP_001301006.1:p.Asn563=
NM_000313.4:c.1593C>T MANE Select	NP_000304.2:p.Asn531=
NM_001314077.2:c.1689C>T	NP_001301006.1:p.Asn563=