Canonical Allele Identifier: CA353672614

Gene: PROS1

Linked Data

• ClinVar Variation Id: 627405
• ClinVar RCV Id: RCV000852246
• dbSNP Id: rs1395378093
• gnomAD v3: 3-93896628-G-A
• gnomAD v4: 3-93896628-G-A
• MyVariant Identifiers: chr3:g.93615472G>A (hg19) ; chr3:g.93896628G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93896628G>A , CM000665.2:g.93896628G>A	GRCh38
NC_000003.11:g.93615472G>A , CM000665.1:g.93615472G>A	GRCh37
NC_000003.10:g.95098162G>A	NCBI36
NG_009813.1:g.82463C>T , LRG_572:g.82463C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.913C>T	ENSP00000330021.7:p.Gln305Ter
ENST00000394236.9:c.913C>T MANE Select	ENSP00000377783.3:p.Gln305Ter
ENST00000407433.6:c.868C>T	ENSP00000385794.2:p.Gln290Ter
ENST00000647936.1:c.913C>T	ENSP00000496822.1:p.Gln305Ter
ENST00000648381.1:n.1081C>T
ENST00000648853.1:c.871C>T	ENSP00000497262.1:p.Gln291Ter
ENST00000649103.1:c.1012C>T	ENSP00000497962.1:n.1012C>T
ENST00000650591.1:c.1009C>T	ENSP00000497376.1:p.Gln337Ter
ENST00000394236.7:c.913C>T	ENSP00000377783.3:p.Gln305Ter
ENST00000407433.5:c.520C>T	ENSP00000385794.1:p.Gln174Ter
NM_000313.3:c.913C>T , LRG_572t1:c.913C>T	NP_000304.2:p.Gln305Ter
NM_001314077.1:c.1009C>T , LRG_572t2:c.1009C>T	NP_001301006.1:p.Gln337Ter
NM_000313.4:c.913C>T MANE Select	NP_000304.2:p.Gln305Ter
NM_001314077.2:c.1009C>T	NP_001301006.1:p.Gln337Ter