Canonical Allele Identifier: CA2503160

Gene: PROS1

Linked Data

• ClinVar Variation Id: 627010
• ClinVar RCV Id: RCV000851707 ; RCV002500995 ; RCV002536612
• dbSNP Id: rs373336653
• ExAC: 3:93598098 G / A
• gnomAD v2: 3-93598098-G-A
• gnomAD v3: 3-93879254-G-A
• gnomAD v4: 3-93879254-G-A
• MyVariant Identifiers: chr3:g.93598098G>A (hg19) ; chr3:g.93879254G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93879254G>A , CM000665.2:g.93879254G>A	GRCh38
NC_000003.11:g.93598098G>A , CM000665.1:g.93598098G>A	GRCh37
NC_000003.10:g.95080788G>A	NCBI36
NG_009813.1:g.99837C>T , LRG_572:g.99837C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.1553C>T	ENSP00000330021.7:p.Thr518Met
ENST00000394236.9:c.1553C>T MANE Select	ENSP00000377783.3:p.Thr518Met
ENST00000407433.6:c.1508C>T	ENSP00000385794.2:p.Thr503Met
ENST00000647936.1:c.1553C>T	ENSP00000496822.1:p.Thr518Met
ENST00000648381.1:n.1721C>T
ENST00000648853.1:c.1511C>T	ENSP00000497262.1:p.Thr504Met
ENST00000649103.1:c.1652C>T	ENSP00000497962.1:n.1652C>T
ENST00000649585.1:c.496C>T	ENSP00000498163.1:n.496C>T
ENST00000650591.1:c.1649C>T	ENSP00000497376.1:p.Thr550Met
ENST00000394236.7:c.1553C>T	ENSP00000377783.3:p.Thr518Met
ENST00000407433.5:c.1160C>T	ENSP00000385794.1:p.Thr387Met
NM_000313.3:c.1553C>T , LRG_572t1:c.1553C>T	NP_000304.2:p.Thr518Met
NM_001314077.1:c.1649C>T , LRG_572t2:c.1649C>T	NP_001301006.1:p.Thr550Met
NM_000313.4:c.1553C>T MANE Select	NP_000304.2:p.Thr518Met
NM_001314077.2:c.1649C>T	NP_001301006.1:p.Thr550Met