Canonical Allele Identifier: CA2503161

Gene: PROS1

Linked Data

• ClinVar Variation Id: 1703788
• ClinVar RCV Id: RCV002280947
• dbSNP Id: rs769700380
• ExAC: 3:93598107 C / T
• gnomAD v2: 3-93598107-C-T
• gnomAD v3: 3-93879263-C-T
• gnomAD v4: 3-93879263-C-T
• COSMIC: COSM198738
• MyVariant Identifiers: chr3:g.93598107C>T (hg19) ; chr3:g.93879263C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93879263C>T , CM000665.2:g.93879263C>T	GRCh38
NC_000003.11:g.93598107C>T , CM000665.1:g.93598107C>T	GRCh37
NC_000003.10:g.95080797C>T	NCBI36
NG_009813.1:g.99828G>A , LRG_572:g.99828G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.1544G>A	ENSP00000330021.7:p.Arg515His
ENST00000394236.9:c.1544G>A MANE Select	ENSP00000377783.3:p.Arg515His
ENST00000407433.6:c.1499G>A	ENSP00000385794.2:p.Arg500His
ENST00000647936.1:c.1544G>A	ENSP00000496822.1:p.Arg515His
ENST00000648381.1:n.1712G>A
ENST00000648853.1:c.1502G>A	ENSP00000497262.1:p.Arg501His
ENST00000649103.1:c.1643G>A	ENSP00000497962.1:n.1643G>A
ENST00000649585.1:c.487G>A	ENSP00000498163.1:n.487G>A
ENST00000650591.1:c.1640G>A	ENSP00000497376.1:p.Arg547His
ENST00000394236.7:c.1544G>A	ENSP00000377783.3:p.Arg515His
ENST00000407433.5:c.1151G>A	ENSP00000385794.1:p.Arg384His
NM_000313.3:c.1544G>A , LRG_572t1:c.1544G>A	NP_000304.2:p.Arg515His
NM_001314077.1:c.1640G>A , LRG_572t2:c.1640G>A	NP_001301006.1:p.Arg547His
NM_000313.4:c.1544G>A MANE Select	NP_000304.2:p.Arg515His
NM_001314077.2:c.1640G>A	NP_001301006.1:p.Arg547His