Canonical Allele Identifier: CA353674622

Gene: PROS1

Linked Data

• ClinVar Variation Id: 985326
• ClinVar RCV Id: RCV001266167
• dbSNP Id: rs1709034856
• MyVariant Identifiers: chr3:g.93646189C>G (hg19) ; chr3:g.93927345C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93927345C>G , CM000665.2:g.93927345C>G	GRCh38
NC_000003.11:g.93646189C>G , CM000665.1:g.93646189C>G	GRCh37
NC_000003.10:g.95128879C>G	NCBI36
NG_009813.1:g.51746G>C , LRG_572:g.51746G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000348974.5:c.139G>C	ENSP00000330021.7:p.Glu47Gln
ENST00000394236.9:c.139G>C MANE Select	ENSP00000377783.3:p.Glu47Gln
ENST00000407433.6:c.139G>C	ENSP00000385794.2:p.Glu47Gln
ENST00000472684.2:c.-255G>C	ENSP00000419616.2:n.-255G>C
ENST00000647936.1:c.139G>C	ENSP00000496822.1:p.Glu47Gln
ENST00000648381.1:n.307G>C
ENST00000648853.1:c.97G>C	ENSP00000497262.1:p.Glu33Gln
ENST00000649103.1:c.118G>C	ENSP00000497962.1:p.Glu40Gln
ENST00000650591.1:c.235G>C	ENSP00000497376.1:p.Glu79Gln
ENST00000348974.4:c.235G>C	ENSP00000330021.6:p.Glu79Gln
ENST00000394236.7:c.139G>C	ENSP00000377783.3:p.Glu47Gln
ENST00000407433.5:c.-255G>C	ENSP00000385794.1:n.-255G>C
ENST00000472684.1:c.-255G>C	ENSP00000419616.1:n.-255G>C
NM_000313.3:c.139G>C , LRG_572t1:c.139G>C	NP_000304.2:p.Glu47Gln
NM_001314077.1:c.235G>C , LRG_572t2:c.235G>C	NP_001301006.1:p.Glu79Gln
NM_000313.4:c.139G>C MANE Select	NP_000304.2:p.Glu47Gln
NM_001314077.2:c.235G>C	NP_001301006.1:p.Glu79Gln