Canonical Allele Identifier: CA353671735

Gene: PROS1

Linked Data

• ClinVar Variation Id: 2917136
• ClinVar RCV Id: RCV003643433
• dbSNP Id: rs1338128189
• gnomAD v2: 3-93598034-C-A
• gnomAD v4: 3-93879190-C-A
• MyVariant Identifiers: chr3:g.93598034C>A (hg19) ; chr3:g.93879190C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93879190C>A , CM000665.2:g.93879190C>A	GRCh38
NC_000003.11:g.93598034C>A , CM000665.1:g.93598034C>A	GRCh37
NC_000003.10:g.95080724C>A	NCBI36
NG_009813.1:g.99901G>T , LRG_572:g.99901G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.1617G>T	ENSP00000330021.7:p.Leu539Phe
ENST00000394236.9:c.1617G>T MANE Select	ENSP00000377783.3:p.Leu539Phe
ENST00000407433.6:c.1572G>T	ENSP00000385794.2:p.Leu524Phe
ENST00000647936.1:c.1617G>T	ENSP00000496822.1:p.Leu539Phe
ENST00000648381.1:n.1785G>T
ENST00000648853.1:c.1575G>T	ENSP00000497262.1:p.Leu525Phe
ENST00000649103.1:c.1716G>T	ENSP00000497962.1:n.1716G>T
ENST00000649585.1:c.560G>T	ENSP00000498163.1:n.560G>T
ENST00000650591.1:c.1713G>T	ENSP00000497376.1:p.Leu571Phe
ENST00000394236.7:c.1617G>T	ENSP00000377783.3:p.Leu539Phe
ENST00000407433.5:c.1224G>T	ENSP00000385794.1:p.Leu408Phe
NM_000313.3:c.1617G>T , LRG_572t1:c.1617G>T	NP_000304.2:p.Leu539Phe
NM_001314077.1:c.1713G>T , LRG_572t2:c.1713G>T	NP_001301006.1:p.Leu571Phe
NM_000313.4:c.1617G>T MANE Select	NP_000304.2:p.Leu539Phe
NM_001314077.2:c.1713G>T	NP_001301006.1:p.Leu571Phe