Canonical Allele Identifier: CA78490861

Gene: PROS1

Linked Data

• dbSNP Id: rs150360829
• gnomAD v3: 3-93905795-T-C
• gnomAD v4: 3-93905795-T-C
• MyVariant Identifiers: chr3:g.93624639T>C (hg19) ; chr3:g.93905795T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93905795T>C , CM000665.2:g.93905795T>C	GRCh38
NC_000003.11:g.93624639T>C , CM000665.1:g.93624639T>C	GRCh37
NC_000003.10:g.95107329T>C	NCBI36
NG_009813.1:g.73296A>G , LRG_572:g.73296A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000348974.5:c.590A>G	ENSP00000330021.7:p.Lys197Arg
ENST00000394236.9:c.590A>G MANE Select	ENSP00000377783.3:p.Lys197Arg
ENST00000407433.6:c.556+34A>G	ENSP00000385794.2:n.556+34A>G
ENST00000647936.1:c.590A>G	ENSP00000496822.1:p.Lys197Arg
ENST00000648381.1:n.758A>G
ENST00000648853.1:c.548A>G	ENSP00000497262.1:p.Lys183Arg
ENST00000649103.1:c.689A>G	ENSP00000497962.1:n.689A>G
ENST00000650591.1:c.686A>G	ENSP00000497376.1:p.Lys229Arg
ENST00000348974.4:c.686A>G	ENSP00000330021.6:p.Lys229Arg
ENST00000394236.7:c.590A>G	ENSP00000377783.3:p.Lys197Arg
ENST00000407433.5:c.197A>G	ENSP00000385794.1:p.Lys66Arg
NM_000313.3:c.590A>G , LRG_572t1:c.590A>G	NP_000304.2:p.Lys197Arg
NM_001314077.1:c.686A>G , LRG_572t2:c.686A>G	NP_001301006.1:p.Lys229Arg
NM_000313.4:c.590A>G MANE Select	NP_000304.2:p.Lys197Arg
NM_001314077.2:c.686A>G	NP_001301006.1:p.Lys229Arg