Canonical Allele Identifier: CA2503166

Gene: PROS1

Linked Data

• dbSNP Id: rs760371116
• ExAC: 3:93598130 A / C
• gnomAD v2: 3-93598130-A-C
• gnomAD v3: 3-93879286-A-C
• gnomAD v4: 3-93879286-A-C
• MyVariant Identifiers: chr3:g.93598130A>C (hg19) ; chr3:g.93879286A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93879286A>C , CM000665.2:g.93879286A>C	GRCh38
NC_000003.11:g.93598130A>C , CM000665.1:g.93598130A>C	GRCh37
NC_000003.10:g.95080820A>C	NCBI36
NG_009813.1:g.99805T>G , LRG_572:g.99805T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000348974.5:c.1521T>G	ENSP00000330021.7:p.His507Gln
ENST00000394236.9:c.1521T>G MANE Select	ENSP00000377783.3:p.His507Gln
ENST00000407433.6:c.1476T>G	ENSP00000385794.2:p.His492Gln
ENST00000647936.1:c.1521T>G	ENSP00000496822.1:p.His507Gln
ENST00000648381.1:n.1689T>G
ENST00000648853.1:c.1479T>G	ENSP00000497262.1:p.His493Gln
ENST00000649103.1:c.1620T>G	ENSP00000497962.1:n.1620T>G
ENST00000649585.1:c.464T>G	ENSP00000498163.1:n.464T>G
ENST00000650591.1:c.1617T>G	ENSP00000497376.1:p.His539Gln
ENST00000394236.7:c.1521T>G	ENSP00000377783.3:p.His507Gln
ENST00000407433.5:c.1128T>G	ENSP00000385794.1:p.His376Gln
NM_000313.3:c.1521T>G , LRG_572t1:c.1521T>G	NP_000304.2:p.His507Gln
NM_001314077.1:c.1617T>G , LRG_572t2:c.1617T>G	NP_001301006.1:p.His539Gln
NM_000313.4:c.1521T>G MANE Select	NP_000304.2:p.His507Gln
NM_001314077.2:c.1617T>G	NP_001301006.1:p.His539Gln