Canonical Allele Identifier: CA434463030

Gene: PROS1

Linked Data

• ClinVar Variation Id: 2027054
• ClinVar RCV Id: RCV002871671
• gnomAD v4: 3-93876979-C-T
• MyVariant Identifiers: chr3:g.93595823C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93876979C>T , CM000665.2:g.93876979C>T	GRCh38
NC_000003.11:g.93595823C>T , CM000665.1:g.93595823C>T	GRCh37
NC_000003.10:g.95078513C>T	NCBI36
NG_009813.1:g.102112G>A , LRG_572:g.102112G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.1857G>A	ENSP00000330021.7:p.Leu619=
ENST00000394236.9:c.1857G>A MANE Select	ENSP00000377783.3:p.Leu619=
ENST00000407433.6:c.1812G>A	ENSP00000385794.2:p.Leu604=
ENST00000647936.1:c.1644+2184G>A	ENSP00000496822.1:n.1644+2184G>A
ENST00000648381.1:n.2025G>A
ENST00000648853.1:c.1815G>A	ENSP00000497262.1:p.Leu605=
ENST00000650591.1:c.1953G>A	ENSP00000497376.1:p.Leu651=
ENST00000394236.7:c.1857G>A	ENSP00000377783.3:p.Leu619=
ENST00000407433.5:c.1464G>A	ENSP00000385794.1:p.Leu488=
NM_000313.3:c.1857G>A , LRG_572t1:c.1857G>A	NP_000304.2:p.Leu619=
NM_001314077.1:c.1953G>A , LRG_572t2:c.1953G>A	NP_001301006.1:p.Leu651=
NM_000313.4:c.1857G>A MANE Select	NP_000304.2:p.Leu619=
NM_001314077.2:c.1953G>A	NP_001301006.1:p.Leu651=