Canonical Allele Identifier: CA353670934

Gene: PROS1

Linked Data

• ClinVar Variation Id: 1312442
• ClinVar RCV Id: RCV001755196 ; RCV003772020
• dbSNP Id: rs2107125076
• MyVariant Identifiers: chr3:g.93595869A>C (hg19) ; chr3:g.93877025A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93877025A>C , CM000665.2:g.93877025A>C	GRCh38
NC_000003.11:g.93595869A>C , CM000665.1:g.93595869A>C	GRCh37
NC_000003.10:g.95078559A>C	NCBI36
NG_009813.1:g.102066T>G , LRG_572:g.102066T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.1811T>G	ENSP00000330021.7:p.Leu604Arg
ENST00000394236.9:c.1811T>G MANE Select	ENSP00000377783.3:p.Leu604Arg
ENST00000407433.6:c.1766T>G	ENSP00000385794.2:p.Leu589Arg
ENST00000647936.1:c.1644+2138T>G	ENSP00000496822.1:n.1644+2138T>G
ENST00000648381.1:n.1979T>G
ENST00000648853.1:c.1769T>G	ENSP00000497262.1:p.Leu590Arg
ENST00000649585.1:c.754T>G	ENSP00000498163.1:n.754T>G
ENST00000650591.1:c.1907T>G	ENSP00000497376.1:p.Leu636Arg
ENST00000394236.7:c.1811T>G	ENSP00000377783.3:p.Leu604Arg
ENST00000407433.5:c.1418T>G	ENSP00000385794.1:p.Leu473Arg
NM_000313.3:c.1811T>G , LRG_572t1:c.1811T>G	NP_000304.2:p.Leu604Arg
NM_001314077.1:c.1907T>G , LRG_572t2:c.1907T>G	NP_001301006.1:p.Leu636Arg
NM_000313.4:c.1811T>G MANE Select	NP_000304.2:p.Leu604Arg
NM_001314077.2:c.1907T>G	NP_001301006.1:p.Leu636Arg