Canonical Allele Identifier: CA353669585

Gene: PROS1

Linked Data

• ClinVar Variation Id: 627026
• ClinVar RCV Id: RCV000851727
• dbSNP Id: rs1576170541
• gnomAD v4: 3-93874303-T-C
• MyVariant Identifiers: chr3:g.93593147T>C (hg19) ; chr3:g.93874303T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93874303T>C , CM000665.2:g.93874303T>C	GRCh38
NC_000003.11:g.93593147T>C , CM000665.1:g.93593147T>C	GRCh37
NC_000003.10:g.95075837T>C	NCBI36
NG_009813.1:g.104788A>G , LRG_572:g.104788A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.1973A>G	ENSP00000330021.7:p.His658Arg
ENST00000394236.9:c.1973A>G MANE Select	ENSP00000377783.3:p.His658Arg
ENST00000407433.6:c.1928A>G	ENSP00000385794.2:p.His643Arg
ENST00000647936.1:c.*76A>G	ENSP00000496822.1:n.*76A>G
ENST00000648381.1:n.2141A>G
ENST00000648853.1:c.1931A>G	ENSP00000497262.1:p.His644Arg
ENST00000650591.1:c.2069A>G	ENSP00000497376.1:p.His690Arg
ENST00000394236.7:c.1973A>G	ENSP00000377783.3:p.His658Arg
ENST00000407433.5:c.1580A>G	ENSP00000385794.1:p.His527Arg
NM_000313.3:c.1973A>G , LRG_572t1:c.1973A>G	NP_000304.2:p.His658Arg
NM_001314077.1:c.2069A>G , LRG_572t2:c.2069A>G	NP_001301006.1:p.His690Arg
NM_000313.4:c.1973A>G MANE Select	NP_000304.2:p.His658Arg
NM_001314077.2:c.2069A>G	NP_001301006.1:p.His690Arg