Canonical Allele Identifier: CA434460830

Gene: PROS1

Linked Data

• dbSNP Id: rs1298825754
• gnomAD v2: 3-93615452-T-C
• gnomAD v4: 3-93896608-T-C
• MyVariant Identifiers: chr3:g.93615452T>C (hg19) ; chr3:g.93896608T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93896608T>C , CM000665.2:g.93896608T>C	GRCh38
NC_000003.11:g.93615452T>C , CM000665.1:g.93615452T>C	GRCh37
NC_000003.10:g.95098142T>C	NCBI36
NG_009813.1:g.82483A>G , LRG_572:g.82483A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.933A>G	ENSP00000330021.7:p.Leu311=
ENST00000394236.9:c.933A>G MANE Select	ENSP00000377783.3:p.Leu311=
ENST00000407433.6:c.888A>G	ENSP00000385794.2:p.Leu296=
ENST00000647936.1:c.933A>G	ENSP00000496822.1:p.Leu311=
ENST00000648381.1:n.1101A>G
ENST00000648853.1:c.891A>G	ENSP00000497262.1:p.Leu297=
ENST00000649103.1:c.1032A>G	ENSP00000497962.1:n.1032A>G
ENST00000650591.1:c.1029A>G	ENSP00000497376.1:p.Leu343=
ENST00000394236.7:c.933A>G	ENSP00000377783.3:p.Leu311=
ENST00000407433.5:c.540A>G	ENSP00000385794.1:p.Leu180=
NM_000313.3:c.933A>G , LRG_572t1:c.933A>G	NP_000304.2:p.Leu311=
NM_001314077.1:c.1029A>G , LRG_572t2:c.1029A>G	NP_001301006.1:p.Leu343=
NM_000313.4:c.933A>G MANE Select	NP_000304.2:p.Leu311=
NM_001314077.2:c.1029A>G	NP_001301006.1:p.Leu343=