Canonical Allele Identifier: CA10619716

Gene: PROS1

Linked Data

• ClinVar Variation Id: 346880
• ClinVar RCV Id: RCV000361545
• dbSNP Id: rs886058926
• gnomAD v4: 3-93874273-G-A
• MyVariant Identifiers: chr3:g.93593117G>A (hg19) ; chr3:g.93874273G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93874273G>A , CM000665.2:g.93874273G>A	GRCh38
NC_000003.11:g.93593117G>A , CM000665.1:g.93593117G>A	GRCh37
NC_000003.10:g.95075807G>A	NCBI36
NG_009813.1:g.104818C>T , LRG_572:g.104818C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.2003C>T	ENSP00000330021.7:p.Ser668Leu
ENST00000394236.9:c.2003C>T MANE Select	ENSP00000377783.3:p.Ser668Leu
ENST00000407433.6:c.1958C>T	ENSP00000385794.2:p.Ser653Leu
ENST00000647936.1:c.*106C>T	ENSP00000496822.1:n.*106C>T
ENST00000648381.1:n.2171C>T
ENST00000648853.1:c.1961C>T	ENSP00000497262.1:p.Ser654Leu
ENST00000650591.1:c.2099C>T	ENSP00000497376.1:p.Ser700Leu
ENST00000394236.7:c.2003C>T	ENSP00000377783.3:p.Ser668Leu
ENST00000407433.5:c.1610C>T	ENSP00000385794.1:p.Ser537Leu
NM_000313.3:c.2003C>T , LRG_572t1:c.2003C>T	NP_000304.2:p.Ser668Leu
NM_001314077.1:c.2099C>T , LRG_572t2:c.2099C>T	NP_001301006.1:p.Ser700Leu
NM_000313.4:c.2003C>T MANE Select	NP_000304.2:p.Ser668Leu
NM_001314077.2:c.2099C>T	NP_001301006.1:p.Ser700Leu