Canonical Allele Identifier: CA2503340

Gene: PROS1

Linked Data

• dbSNP Id: rs751683365
• ExAC: 3:93615534 A / C
• gnomAD v2: 3-93615534-A-C
• gnomAD v4: 3-93896690-A-C
• MyVariant Identifiers: chr3:g.93615534A>C (hg19) ; chr3:g.93896690A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93896690A>C , CM000665.2:g.93896690A>C	GRCh38
NC_000003.11:g.93615534A>C , CM000665.1:g.93615534A>C	GRCh37
NC_000003.10:g.95098224A>C	NCBI36
NG_009813.1:g.82401T>G , LRG_572:g.82401T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.851T>G	ENSP00000330021.7:p.Val284Gly
ENST00000394236.9:c.851T>G MANE Select	ENSP00000377783.3:p.Val284Gly
ENST00000407433.6:c.806T>G	ENSP00000385794.2:p.Val269Gly
ENST00000647936.1:c.851T>G	ENSP00000496822.1:p.Val284Gly
ENST00000648381.1:n.1019T>G
ENST00000648853.1:c.809T>G	ENSP00000497262.1:p.Val270Gly
ENST00000649103.1:c.950T>G	ENSP00000497962.1:n.950T>G
ENST00000650591.1:c.947T>G	ENSP00000497376.1:p.Val316Gly
ENST00000394236.7:c.851T>G	ENSP00000377783.3:p.Val284Gly
ENST00000407433.5:c.458T>G	ENSP00000385794.1:p.Val153Gly
NM_000313.3:c.851T>G , LRG_572t1:c.851T>G	NP_000304.2:p.Val284Gly
NM_001314077.1:c.947T>G , LRG_572t2:c.947T>G	NP_001301006.1:p.Val316Gly
NM_000313.4:c.851T>G MANE Select	NP_000304.2:p.Val284Gly
NM_001314077.2:c.947T>G	NP_001301006.1:p.Val316Gly