Canonical Allele Identifier: CA2503440

Gene: PROS1

Linked Data

• dbSNP Id: rs374390217
• ExAC: 3:93624601 G / A
• gnomAD v2: 3-93624601-G-A
• gnomAD v3: 3-93905757-G-A
• gnomAD v4: 3-93905757-G-A
• MyVariant Identifiers: chr3:g.93624601G>A (hg19) ; chr3:g.93905757G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93905757G>A , CM000665.2:g.93905757G>A	GRCh38
NC_000003.11:g.93624601G>A , CM000665.1:g.93624601G>A	GRCh37
NC_000003.10:g.95107291G>A	NCBI36
NG_009813.1:g.73334C>T , LRG_572:g.73334C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000348974.5:c.601+27C>T	ENSP00000330021.7:n.601+27C>T
ENST00000394236.9:c.601+27C>T MANE Select	ENSP00000377783.3:n.601+27C>T
ENST00000407433.6:c.556+72C>T	ENSP00000385794.2:n.556+72C>T
ENST00000647936.1:c.601+27C>T	ENSP00000496822.1:n.601+27C>T
ENST00000648381.1:n.769+27C>T
ENST00000648853.1:c.559+27C>T	ENSP00000497262.1:n.559+27C>T
ENST00000649103.1:c.700+27C>T	ENSP00000497962.1:n.700+27C>T
ENST00000650591.1:c.697+27C>T	ENSP00000497376.1:n.697+27C>T
ENST00000394236.7:c.601+27C>T	ENSP00000377783.3:n.601+27C>T
ENST00000407433.5:c.208+27C>T	ENSP00000385794.1:n.208+27C>T
NM_000313.3:c.601+27C>T , LRG_572t1:c.601+27C>T	NP_000304.2:n.601+27C>T
NM_001314077.1:c.697+27C>T , LRG_572t2:c.697+27C>T	NP_001301006.1:n.697+27C>T
NM_000313.4:c.601+27C>T MANE Select	NP_000304.2:n.601+27C>T
NM_001314077.2:c.697+27C>T	NP_001301006.1:n.697+27C>T