Canonical Allele Identifier: CA353672523
Gene: PROS1 HGNC NCBI

Linked Data

dbSNP Id: rs1418105945
gnomAD v2: 3-93615429-T-C
gnomAD v4: 3-93896585-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93896585T>C , CM000665.2:g.93896585T>C GRCh38
NC_000003.11:g.93615429T>C , CM000665.1:g.93615429T>C GRCh37
NC_000003.10:g.95098119T>C NCBI36
NG_009813.1:g.82506A>G , LRG_572:g.82506A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000348974.5:c.956A>G ENSP00000330021.7:p.Glu319Gly
ENST00000394236.9:c.956A>G MANE Select ENSP00000377783.3:p.Glu319Gly
ENST00000407433.6:c.911A>G ENSP00000385794.2:p.Glu304Gly
ENST00000647936.1:c.956A>G ENSP00000496822.1:p.Glu319Gly
ENST00000648381.1:n.1124A>G
ENST00000648853.1:c.914A>G ENSP00000497262.1:p.Glu305Gly
ENST00000649103.1:c.1055A>G ENSP00000497962.1:n.1055A>G
ENST00000650591.1:c.1052A>G ENSP00000497376.1:p.Glu351Gly
ENST00000394236.7:c.956A>G ENSP00000377783.3:p.Glu319Gly
ENST00000407433.5:c.563A>G ENSP00000385794.1:p.Glu188Gly
NM_000313.3:c.956A>G , LRG_572t1:c.956A>G NP_000304.2:p.Glu319Gly
NM_001314077.1:c.1052A>G , LRG_572t2:c.1052A>G NP_001301006.1:p.Glu351Gly
NM_000313.4:c.956A>G MANE Select NP_000304.2:p.Glu319Gly
NM_001314077.2:c.1052A>G NP_001301006.1:p.Glu351Gly