Canonical Allele Identifier: CA2503098

Gene: PROS1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.1790A>C	ENSP00000330021.7:p.His597Pro
ENST00000394236.9:c.1790A>C MANE Select	ENSP00000377783.3:p.His597Pro
ENST00000407433.6:c.1745A>C	ENSP00000385794.2:p.His582Pro
ENST00000647936.1:c.1644+2117A>C	ENSP00000496822.1:n.1644+2117A>C
ENST00000648381.1:n.1958A>C
ENST00000648853.1:c.1748A>C	ENSP00000497262.1:p.His583Pro
ENST00000649585.1:c.733A>C	ENSP00000498163.1:n.733A>C
ENST00000650591.1:c.1886A>C	ENSP00000497376.1:p.His629Pro
ENST00000394236.7:c.1790A>C	ENSP00000377783.3:p.His597Pro
ENST00000407433.5:c.1397A>C	ENSP00000385794.1:p.His466Pro
NM_000313.3:c.1790A>C , LRG_572t1:c.1790A>C	NP_000304.2:p.His597Pro
NM_001314077.1:c.1886A>C , LRG_572t2:c.1886A>C	NP_001301006.1:p.His629Pro
NM_000313.4:c.1790A>C MANE Select	NP_000304.2:p.His597Pro
NM_001314077.2:c.1886A>C	NP_001301006.1:p.His629Pro