Canonical Allele Identifier: CA353671008

Gene: PROS1

Linked Data

• dbSNP Id: rs780812527
• gnomAD v2: 3-93595890-T-C
• gnomAD v3: 3-93877046-T-C
• gnomAD v4: 3-93877046-T-C
• MyVariant Identifiers: chr3:g.93595890T>C (hg19) ; chr3:g.93877046T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93877046T>C , CM000665.2:g.93877046T>C	GRCh38
NC_000003.11:g.93595890T>C , CM000665.1:g.93595890T>C	GRCh37
NC_000003.10:g.95078580T>C	NCBI36
NG_009813.1:g.102045A>G , LRG_572:g.102045A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.1790A>G	ENSP00000330021.7:p.His597Arg
ENST00000394236.9:c.1790A>G MANE Select	ENSP00000377783.3:p.His597Arg
ENST00000407433.6:c.1745A>G	ENSP00000385794.2:p.His582Arg
ENST00000647936.1:c.1644+2117A>G	ENSP00000496822.1:n.1644+2117A>G
ENST00000648381.1:n.1958A>G
ENST00000648853.1:c.1748A>G	ENSP00000497262.1:p.His583Arg
ENST00000649585.1:c.733A>G	ENSP00000498163.1:n.733A>G
ENST00000650591.1:c.1886A>G	ENSP00000497376.1:p.His629Arg
ENST00000394236.7:c.1790A>G	ENSP00000377783.3:p.His597Arg
ENST00000407433.5:c.1397A>G	ENSP00000385794.1:p.His466Arg
NM_000313.3:c.1790A>G , LRG_572t1:c.1790A>G	NP_000304.2:p.His597Arg
NM_001314077.1:c.1886A>G , LRG_572t2:c.1886A>G	NP_001301006.1:p.His629Arg
NM_000313.4:c.1790A>G MANE Select	NP_000304.2:p.His597Arg
NM_001314077.2:c.1886A>G	NP_001301006.1:p.His629Arg