Canonical Allele Identifier: CA2503285

Gene: PROS1

Linked Data

• ClinVar Variation Id: 697077
• ClinVar RCV Id: RCV000863767
• dbSNP Id: rs376656035
• ExAC: 3:93611891 T / C
• gnomAD v2: 3-93611891-T-C
• gnomAD v3: 3-93893047-T-C
• gnomAD v4: 3-93893047-T-C
• MyVariant Identifiers: chr3:g.93611891T>C (hg19) ; chr3:g.93893047T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93893047T>C , CM000665.2:g.93893047T>C	GRCh38
NC_000003.11:g.93611891T>C , CM000665.1:g.93611891T>C	GRCh37
NC_000003.10:g.95094581T>C	NCBI36
NG_009813.1:g.86044A>G , LRG_572:g.86044A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.1041A>G	ENSP00000330021.7:p.Ser347=
ENST00000394236.9:c.1041A>G MANE Select	ENSP00000377783.3:p.Ser347=
ENST00000407433.6:c.996A>G	ENSP00000385794.2:p.Ser332=
ENST00000647936.1:c.1041A>G	ENSP00000496822.1:p.Ser347=
ENST00000648381.1:n.1209A>G
ENST00000648853.1:c.999A>G	ENSP00000497262.1:p.Ser333=
ENST00000649103.1:c.1140A>G	ENSP00000497962.1:n.1140A>G
ENST00000650591.1:c.1137A>G	ENSP00000497376.1:p.Ser379=
ENST00000394236.7:c.1041A>G	ENSP00000377783.3:p.Ser347=
ENST00000407433.5:c.648A>G	ENSP00000385794.1:p.Ser216=
NM_000313.3:c.1041A>G , LRG_572t1:c.1041A>G	NP_000304.2:p.Ser347=
NM_001314077.1:c.1137A>G , LRG_572t2:c.1137A>G	NP_001301006.1:p.Ser379=
NM_000313.4:c.1041A>G MANE Select	NP_000304.2:p.Ser347=
NM_001314077.2:c.1137A>G	NP_001301006.1:p.Ser379=