Canonical Allele Identifier: CA78484089

Gene: PROS1

Linked Data

• dbSNP Id: rs376814926
• gnomAD v4: 3-93896641-A-G
• MyVariant Identifiers: chr3:g.93615485A>G (hg19) ; chr3:g.93896641A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93896641A>G , CM000665.2:g.93896641A>G	GRCh38
NC_000003.11:g.93615485A>G , CM000665.1:g.93615485A>G	GRCh37
NC_000003.10:g.95098175A>G	NCBI36
NG_009813.1:g.82450T>C , LRG_572:g.82450T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.900T>C	ENSP00000330021.7:p.Leu300=
ENST00000394236.9:c.900T>C MANE Select	ENSP00000377783.3:p.Leu300=
ENST00000407433.6:c.855T>C	ENSP00000385794.2:p.Leu285=
ENST00000647936.1:c.900T>C	ENSP00000496822.1:p.Leu300=
ENST00000648381.1:n.1068T>C
ENST00000648853.1:c.858T>C	ENSP00000497262.1:p.Leu286=
ENST00000649103.1:c.999T>C	ENSP00000497962.1:n.999T>C
ENST00000650591.1:c.996T>C	ENSP00000497376.1:p.Leu332=
ENST00000394236.7:c.900T>C	ENSP00000377783.3:p.Leu300=
ENST00000407433.5:c.507T>C	ENSP00000385794.1:p.Leu169=
NM_000313.3:c.900T>C , LRG_572t1:c.900T>C	NP_000304.2:p.Leu300=
NM_001314077.1:c.996T>C , LRG_572t2:c.996T>C	NP_001301006.1:p.Leu332=
NM_000313.4:c.900T>C MANE Select	NP_000304.2:p.Leu300=
NM_001314077.2:c.996T>C	NP_001301006.1:p.Leu332=