Canonical Allele Identifier: CA2503094

Gene: PROS1

Linked Data

• ClinVar Variation Id: 1122256
• ClinVar RCV Id: RCV001452798
• dbSNP Id: rs758204799
• ExAC: 3:93595865 G / A
• gnomAD v2: 3-93595865-G-A
• gnomAD v3: 3-93877021-G-A
• gnomAD v4: 3-93877021-G-A
• MyVariant Identifiers: chr3:g.93595865G>A (hg19) ; chr3:g.93877021G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93877021G>A , CM000665.2:g.93877021G>A	GRCh38
NC_000003.11:g.93595865G>A , CM000665.1:g.93595865G>A	GRCh37
NC_000003.10:g.95078555G>A	NCBI36
NG_009813.1:g.102070C>T , LRG_572:g.102070C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.1815C>T	ENSP00000330021.7:p.Ala605=
ENST00000394236.9:c.1815C>T MANE Select	ENSP00000377783.3:p.Ala605=
ENST00000407433.6:c.1770C>T	ENSP00000385794.2:p.Ala590=
ENST00000647936.1:c.1644+2142C>T	ENSP00000496822.1:n.1644+2142C>T
ENST00000648381.1:n.1983C>T
ENST00000648853.1:c.1773C>T	ENSP00000497262.1:p.Ala591=
ENST00000649585.1:c.758C>T	ENSP00000498163.1:n.758C>T
ENST00000650591.1:c.1911C>T	ENSP00000497376.1:p.Ala637=
ENST00000394236.7:c.1815C>T	ENSP00000377783.3:p.Ala605=
ENST00000407433.5:c.1422C>T	ENSP00000385794.1:p.Ala474=
NM_000313.3:c.1815C>T , LRG_572t1:c.1815C>T	NP_000304.2:p.Ala605=
NM_001314077.1:c.1911C>T , LRG_572t2:c.1911C>T	NP_001301006.1:p.Ala637=
NM_000313.4:c.1815C>T MANE Select	NP_000304.2:p.Ala605=
NM_001314077.2:c.1911C>T	NP_001301006.1:p.Ala637=