Canonical Allele Identifier: CA2503164

Gene: PROS1

Linked Data

• dbSNP Id: rs773328733
• ExAC: 3:93598128 A / G
• gnomAD v2: 3-93598128-A-G
• gnomAD v4: 3-93879284-A-G
• MyVariant Identifiers: chr3:g.93598128A>G (hg19) ; chr3:g.93879284A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93879284A>G , CM000665.2:g.93879284A>G	GRCh38
NC_000003.11:g.93598128A>G , CM000665.1:g.93598128A>G	GRCh37
NC_000003.10:g.95080818A>G	NCBI36
NG_009813.1:g.99807T>C , LRG_572:g.99807T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000348974.5:c.1523T>C	ENSP00000330021.7:p.Val508Ala
ENST00000394236.9:c.1523T>C MANE Select	ENSP00000377783.3:p.Val508Ala
ENST00000407433.6:c.1478T>C	ENSP00000385794.2:p.Val493Ala
ENST00000647936.1:c.1523T>C	ENSP00000496822.1:p.Val508Ala
ENST00000648381.1:n.1691T>C
ENST00000648853.1:c.1481T>C	ENSP00000497262.1:p.Val494Ala
ENST00000649103.1:c.1622T>C	ENSP00000497962.1:n.1622T>C
ENST00000649585.1:c.466T>C	ENSP00000498163.1:n.466T>C
ENST00000650591.1:c.1619T>C	ENSP00000497376.1:p.Val540Ala
ENST00000394236.7:c.1523T>C	ENSP00000377783.3:p.Val508Ala
ENST00000407433.5:c.1130T>C	ENSP00000385794.1:p.Val377Ala
NM_000313.3:c.1523T>C , LRG_572t1:c.1523T>C	NP_000304.2:p.Val508Ala
NM_001314077.1:c.1619T>C , LRG_572t2:c.1619T>C	NP_001301006.1:p.Val540Ala
NM_000313.4:c.1523T>C MANE Select	NP_000304.2:p.Val508Ala
NM_001314077.2:c.1619T>C	NP_001301006.1:p.Val540Ala