Canonical Allele Identifier: CA78485363

Gene: PROS1

Linked Data

• dbSNP Id: rs139786558
• gnomAD v3: 3-93898559-T-G
• gnomAD v4: 3-93898559-T-G
• MyVariant Identifiers: chr3:g.93617403T>G (hg19) ; chr3:g.93898559T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93898559T>G , CM000665.2:g.93898559T>G	GRCh38
NC_000003.11:g.93617403T>G , CM000665.1:g.93617403T>G	GRCh37
NC_000003.10:g.95100093T>G	NCBI36
NG_009813.1:g.80532A>C , LRG_572:g.80532A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.738A>C	ENSP00000330021.7:p.Glu246Asp
ENST00000394236.9:c.738A>C MANE Select	ENSP00000377783.3:p.Glu246Asp
ENST00000407433.6:c.693A>C	ENSP00000385794.2:p.Glu231Asp
ENST00000647936.1:c.738A>C	ENSP00000496822.1:p.Glu246Asp
ENST00000648381.1:n.906A>C
ENST00000648853.1:c.696A>C	ENSP00000497262.1:p.Glu232Asp
ENST00000649103.1:c.837A>C	ENSP00000497962.1:n.837A>C
ENST00000650591.1:c.834A>C	ENSP00000497376.1:p.Glu278Asp
ENST00000394236.7:c.738A>C	ENSP00000377783.3:p.Glu246Asp
ENST00000407433.5:c.345A>C	ENSP00000385794.1:p.Glu115Asp
NM_000313.3:c.738A>C , LRG_572t1:c.738A>C	NP_000304.2:p.Glu246Asp
NM_001314077.1:c.834A>C , LRG_572t2:c.834A>C	NP_001301006.1:p.Glu278Asp
NM_000313.4:c.738A>C MANE Select	NP_000304.2:p.Glu246Asp
NM_001314077.2:c.834A>C	NP_001301006.1:p.Glu278Asp