Canonical Allele Identifier: CA10617566

Gene: PROS1

Linked Data

• ClinVar Variation Id: 346872
• ClinVar RCV Id: RCV000400750
• dbSNP Id: rs770100925
• gnomAD v4: 3-93873823-C-A
• MyVariant Identifiers: chr3:g.93592667C>A (hg19) ; chr3:g.93873823C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93873823C>A , CM000665.2:g.93873823C>A	GRCh38
NC_000003.11:g.93592667C>A , CM000665.1:g.93592667C>A	GRCh37
NC_000003.10:g.95075357C>A	NCBI36
NG_009813.1:g.105268G>T , LRG_572:g.105268G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.*2-410G>T	ENSP00000330021.7:n.*2-410G>T
ENST00000394236.9:c.*422G>T MANE Select	ENSP00000377783.3:n.*422G>T
ENST00000407433.6:c.*422G>T	ENSP00000385794.2:n.*422G>T
ENST00000647936.1:c.*556G>T	ENSP00000496822.1:n.*556G>T
ENST00000648381.1:n.2621G>T
ENST00000648853.1:c.*422G>T	ENSP00000497262.1:n.*422G>T
ENST00000650591.1:c.*422G>T	ENSP00000497376.1:n.*422G>T
ENST00000394236.7:c.*422G>T	ENSP00000377783.3:n.*422G>T
ENST00000407433.5:c.*422G>T	ENSP00000385794.1:n.*422G>T
NM_000313.3:c.*422G>T , LRG_572t1:c.*422G>T	NP_000304.2:n.*422G>T
NM_001314077.1:c.*422G>T , LRG_572t2:c.*422G>T	NP_001301006.1:n.*422G>T
NM_000313.4:c.*422G>T MANE Select	NP_000304.2:n.*422G>T
NM_001314077.2:c.*422G>T	NP_001301006.1:n.*422G>T