Canonical Allele Identifier: CA2503287

Gene: PROS1

Linked Data

• ClinVar Variation Id: 346884
• ClinVar RCV Id: RCV000316523 ; RCV000650162
• dbSNP Id: rs78449232
• ExAC: 3:93611900 G / A
• gnomAD v2: 3-93611900-G-A
• gnomAD v3: 3-93893056-G-A
• gnomAD v4: 3-93893056-G-A
• MyVariant Identifiers: chr3:g.93611900G>A (hg19) ; chr3:g.93893056G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93893056G>A , CM000665.2:g.93893056G>A	GRCh38
NC_000003.11:g.93611900G>A , CM000665.1:g.93611900G>A	GRCh37
NC_000003.10:g.95094590G>A	NCBI36
NG_009813.1:g.86035C>T , LRG_572:g.86035C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.1032C>T	ENSP00000330021.7:p.Ile344=
ENST00000394236.9:c.1032C>T MANE Select	ENSP00000377783.3:p.Ile344=
ENST00000407433.6:c.987C>T	ENSP00000385794.2:p.Ile329=
ENST00000647936.1:c.1032C>T	ENSP00000496822.1:p.Ile344=
ENST00000648381.1:n.1200C>T
ENST00000648853.1:c.990C>T	ENSP00000497262.1:p.Ile330=
ENST00000649103.1:c.1131C>T	ENSP00000497962.1:n.1131C>T
ENST00000650591.1:c.1128C>T	ENSP00000497376.1:p.Ile376=
ENST00000394236.7:c.1032C>T	ENSP00000377783.3:p.Ile344=
ENST00000407433.5:c.639C>T	ENSP00000385794.1:p.Ile213=
NM_000313.3:c.1032C>T , LRG_572t1:c.1032C>T	NP_000304.2:p.Ile344=
NM_001314077.1:c.1128C>T , LRG_572t2:c.1128C>T	NP_001301006.1:p.Ile376=
NM_000313.4:c.1032C>T MANE Select	NP_000304.2:p.Ile344=
NM_001314077.2:c.1128C>T	NP_001301006.1:p.Ile376=