Canonical Allele Identifier: CA353673022

Gene: PROS1

Linked Data

• ClinVar Variation Id: 1048664
• ClinVar RCV Id: RCV001353254
• dbSNP Id: rs2107158284
• MyVariant Identifiers: chr3:g.93617401C>G (hg19) ; chr3:g.93898557C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93898557C>G , CM000665.2:g.93898557C>G	GRCh38
NC_000003.11:g.93617401C>G , CM000665.1:g.93617401C>G	GRCh37
NC_000003.10:g.95100091C>G	NCBI36
NG_009813.1:g.80534G>C , LRG_572:g.80534G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.740G>C	ENSP00000330021.7:p.Cys247Ser
ENST00000394236.9:c.740G>C MANE Select	ENSP00000377783.3:p.Cys247Ser
ENST00000407433.6:c.695G>C	ENSP00000385794.2:p.Cys232Ser
ENST00000647936.1:c.740G>C	ENSP00000496822.1:p.Cys247Ser
ENST00000648381.1:n.908G>C
ENST00000648853.1:c.698G>C	ENSP00000497262.1:p.Cys233Ser
ENST00000649103.1:c.839G>C	ENSP00000497962.1:n.839G>C
ENST00000650591.1:c.836G>C	ENSP00000497376.1:p.Cys279Ser
ENST00000394236.7:c.740G>C	ENSP00000377783.3:p.Cys247Ser
ENST00000407433.5:c.347G>C	ENSP00000385794.1:p.Cys116Ser
NM_000313.3:c.740G>C , LRG_572t1:c.740G>C	NP_000304.2:p.Cys247Ser
NM_001314077.1:c.836G>C , LRG_572t2:c.836G>C	NP_001301006.1:p.Cys279Ser
NM_000313.4:c.740G>C MANE Select	NP_000304.2:p.Cys247Ser
NM_001314077.2:c.836G>C	NP_001301006.1:p.Cys279Ser