Canonical Allele Identifier: CA353672617
Gene: PROS1 HGNC NCBI

Linked Data

dbSNP Id: rs1271603909
gnomAD v3: 3-93896629-C-A
gnomAD v4: 3-93896629-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93896629C>A , CM000665.2:g.93896629C>A GRCh38
NC_000003.11:g.93615473C>A , CM000665.1:g.93615473C>A GRCh37
NC_000003.10:g.95098163C>A NCBI36
NG_009813.1:g.82462G>T , LRG_572:g.82462G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000348974.5:c.912G>T ENSP00000330021.7:p.Glu304Asp
ENST00000394236.9:c.912G>T MANE Select ENSP00000377783.3:p.Glu304Asp
ENST00000407433.6:c.867G>T ENSP00000385794.2:p.Glu289Asp
ENST00000647936.1:c.912G>T ENSP00000496822.1:p.Glu304Asp
ENST00000648381.1:n.1080G>T
ENST00000648853.1:c.870G>T ENSP00000497262.1:p.Glu290Asp
ENST00000649103.1:c.1011G>T ENSP00000497962.1:n.1011G>T
ENST00000650591.1:c.1008G>T ENSP00000497376.1:p.Glu336Asp
ENST00000394236.7:c.912G>T ENSP00000377783.3:p.Glu304Asp
ENST00000407433.5:c.519G>T ENSP00000385794.1:p.Glu173Asp
NM_000313.3:c.912G>T , LRG_572t1:c.912G>T NP_000304.2:p.Glu304Asp
NM_001314077.1:c.1008G>T , LRG_572t2:c.1008G>T NP_001301006.1:p.Glu336Asp
NM_000313.4:c.912G>T MANE Select NP_000304.2:p.Glu304Asp
NM_001314077.2:c.1008G>T NP_001301006.1:p.Glu336Asp