Canonical Allele Identifier: CA2503359

Gene: PROS1

Linked Data

• dbSNP Id: rs767767470
• ExAC: 3:93617292 C / G
• gnomAD v2: 3-93617292-C-G
• gnomAD v4: 3-93898448-C-G
• MyVariant Identifiers: chr3:g.93617292C>G (hg19) ; chr3:g.93898448C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93898448C>G , CM000665.2:g.93898448C>G	GRCh38
NC_000003.11:g.93617292C>G , CM000665.1:g.93617292C>G	GRCh37
NC_000003.10:g.95099982C>G	NCBI36
NG_009813.1:g.80643G>C , LRG_572:g.80643G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000348974.5:c.849G>C	ENSP00000330021.7:p.Glu283Asp
ENST00000394236.9:c.849G>C MANE Select	ENSP00000377783.3:p.Glu283Asp
ENST00000407433.6:c.804G>C	ENSP00000385794.2:p.Glu268Asp
ENST00000647936.1:c.849G>C	ENSP00000496822.1:p.Glu283Asp
ENST00000648381.1:n.1017G>C
ENST00000648853.1:c.807G>C	ENSP00000497262.1:p.Glu269Asp
ENST00000649103.1:c.948G>C	ENSP00000497962.1:n.948G>C
ENST00000650591.1:c.945G>C	ENSP00000497376.1:p.Glu315Asp
ENST00000394236.7:c.849G>C	ENSP00000377783.3:p.Glu283Asp
ENST00000407433.5:c.456G>C	ENSP00000385794.1:p.Glu152Asp
NM_000313.3:c.849G>C , LRG_572t1:c.849G>C	NP_000304.2:p.Glu283Asp
NM_001314077.1:c.945G>C , LRG_572t2:c.945G>C	NP_001301006.1:p.Glu315Asp
NM_000313.4:c.849G>C MANE Select	NP_000304.2:p.Glu283Asp
NM_001314077.2:c.945G>C	NP_001301006.1:p.Glu315Asp