Canonical Allele Identifier: CA434463099

Gene: PROS1

Linked Data

• dbSNP Id: rs1421085031
• gnomAD v2: 3-93595895-G-T
• gnomAD v4: 3-93877051-G-T
• MyVariant Identifiers: chr3:g.93595895G>T (hg19) ; chr3:g.93877051G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93877051G>T , CM000665.2:g.93877051G>T	GRCh38
NC_000003.11:g.93595895G>T , CM000665.1:g.93595895G>T	GRCh37
NC_000003.10:g.95078585G>T	NCBI36
NG_009813.1:g.102040C>A , LRG_572:g.102040C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.1785C>A	ENSP00000330021.7:p.Ile595=
ENST00000394236.9:c.1785C>A MANE Select	ENSP00000377783.3:p.Ile595=
ENST00000407433.6:c.1740C>A	ENSP00000385794.2:p.Ile580=
ENST00000647936.1:c.1644+2112C>A	ENSP00000496822.1:n.1644+2112C>A
ENST00000648381.1:n.1953C>A
ENST00000648853.1:c.1743C>A	ENSP00000497262.1:p.Ile581=
ENST00000649103.1:c.1884C>A	ENSP00000497962.1:n.1884C>A
ENST00000649585.1:c.728C>A	ENSP00000498163.1:n.728C>A
ENST00000650591.1:c.1881C>A	ENSP00000497376.1:p.Ile627=
ENST00000394236.7:c.1785C>A	ENSP00000377783.3:p.Ile595=
ENST00000407433.5:c.1392C>A	ENSP00000385794.1:p.Ile464=
NM_000313.3:c.1785C>A , LRG_572t1:c.1785C>A	NP_000304.2:p.Ile595=
NM_001314077.1:c.1881C>A , LRG_572t2:c.1881C>A	NP_001301006.1:p.Ile627=
NM_000313.4:c.1785C>A MANE Select	NP_000304.2:p.Ile595=
NM_001314077.2:c.1881C>A	NP_001301006.1:p.Ile627=