Canonical Allele Identifier: CA78519989

Gene: PROS1

Linked Data

• ClinVar Variation Id: 903196
• ClinVar RCV Id: RCV001150336
• dbSNP Id: rs539871594
• gnomAD v2: 3-93592635-C-T
• gnomAD v3: 3-93873791-C-T
• gnomAD v4: 3-93873791-C-T
• MyVariant Identifiers: chr3:g.93592635C>T (hg19) ; chr3:g.93873791C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93873791C>T , CM000665.2:g.93873791C>T	GRCh38
NC_000003.11:g.93592635C>T , CM000665.1:g.93592635C>T	GRCh37
NC_000003.10:g.95075325C>T	NCBI36
NG_009813.1:g.105300G>A , LRG_572:g.105300G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.*2-378G>A	ENSP00000330021.7:n.*2-378G>A
ENST00000394236.9:c.*454G>A MANE Select	ENSP00000377783.3:n.*454G>A
ENST00000407433.6:c.*454G>A	ENSP00000385794.2:n.*454G>A
ENST00000647936.1:c.*588G>A	ENSP00000496822.1:n.*588G>A
ENST00000648381.1:n.2653G>A
ENST00000648853.1:c.*454G>A	ENSP00000497262.1:n.*454G>A
ENST00000650591.1:c.*454G>A	ENSP00000497376.1:n.*454G>A
ENST00000394236.7:c.*454G>A	ENSP00000377783.3:n.*454G>A
ENST00000407433.5:c.*454G>A	ENSP00000385794.1:n.*454G>A
NM_000313.3:c.*454G>A , LRG_572t1:c.*454G>A	NP_000304.2:n.*454G>A
NM_001314077.1:c.*454G>A , LRG_572t2:c.*454G>A	NP_001301006.1:n.*454G>A
NM_000313.4:c.*454G>A MANE Select	NP_000304.2:n.*454G>A
NM_001314077.2:c.*454G>A	NP_001301006.1:n.*454G>A