Canonical Allele Identifier: CA211753

Gene: PROS1

Linked Data

• ClinVar Variation Id: 161354
• ClinVar RCV Id: RCV000148760 ; RCV000851762 ; RCV000998114 ; RCV001036311 ; RCV001270492
• dbSNP Id: rs144526169
• ExAC: 3:93629525 C / T
• gnomAD v2: 3-93629525-C-T
• gnomAD v3: 3-93910681-C-T
• gnomAD v4: 3-93910681-C-T
• COSMIC: COSM308418
• MyVariant Identifiers: chr3:g.93629525C>T (hg19) ; chr3:g.93910681C>T (hg38)
• PubMed: PMID:8943854 ; PMID:20880255 ; PMID:25637381

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93910681C>T , CM000665.2:g.93910681C>T	GRCh38
NC_000003.11:g.93629525C>T , CM000665.1:g.93629525C>T	GRCh37
NC_000003.10:g.95112215C>T	NCBI36
NG_009813.1:g.68410G>A , LRG_572:g.68410G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.284G>A	ENSP00000330021.7:p.Gly95Glu
ENST00000394236.9:c.284G>A MANE Select	ENSP00000377783.3:p.Gly95Glu
ENST00000407433.6:c.284G>A	ENSP00000385794.2:p.Gly95Glu
ENST00000472684.2:c.-110G>A	ENSP00000419616.2:n.-110G>A
ENST00000647936.1:c.284G>A	ENSP00000496822.1:p.Gly95Glu
ENST00000648381.1:n.452G>A
ENST00000648853.1:c.242G>A	ENSP00000497262.1:p.Gly81Glu
ENST00000649103.1:c.383G>A	ENSP00000497962.1:n.383G>A
ENST00000650591.1:c.380G>A	ENSP00000497376.1:p.Gly127Glu
ENST00000348974.4:c.380G>A	ENSP00000330021.6:p.Gly127Glu
ENST00000394236.7:c.284G>A	ENSP00000377783.3:p.Gly95Glu
ENST00000407433.5:c.-110G>A	ENSP00000385794.1:n.-110G>A
ENST00000472684.1:c.-110G>A	ENSP00000419616.1:n.-110G>A
ENST00000488658.1:n.477G>A
NM_000313.3:c.284G>A , LRG_572t1:c.284G>A	NP_000304.2:p.Gly95Glu
NM_001314077.1:c.380G>A , LRG_572t2:c.380G>A	NP_001301006.1:p.Gly127Glu
NM_000313.4:c.284G>A MANE Select	NP_000304.2:p.Gly95Glu
NM_001314077.2:c.380G>A	NP_001301006.1:p.Gly127Glu