Canonical Allele Identifier: CA78505726
Gene: PROS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2683979
dbSNP Id: rs963668412
gnomAD v2: 3-93646206-C-T
gnomAD v3: 3-93927362-C-T
gnomAD v4: 3-93927362-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93927362C>T , CM000665.2:g.93927362C>T GRCh38
NC_000003.11:g.93646206C>T , CM000665.1:g.93646206C>T GRCh37
NC_000003.10:g.95128896C>T NCBI36
NG_009813.1:g.51729G>A , LRG_572:g.51729G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000348974.5:c.122G>A ENSP00000330021.7:p.Arg41His
ENST00000394236.9:c.122G>A MANE Select ENSP00000377783.3:p.Arg41His
ENST00000407433.6:c.122G>A ENSP00000385794.2:p.Arg41His
ENST00000472684.2:c.-272G>A ENSP00000419616.2:n.-272G>A
ENST00000647936.1:c.122G>A ENSP00000496822.1:p.Arg41His
ENST00000648381.1:n.290G>A
ENST00000648853.1:c.80G>A ENSP00000497262.1:p.Arg27His
ENST00000649103.1:c.101G>A ENSP00000497962.1:p.Arg34His
ENST00000650591.1:c.218G>A ENSP00000497376.1:p.Arg73His
ENST00000348974.4:c.218G>A ENSP00000330021.6:p.Arg73His
ENST00000394236.7:c.122G>A ENSP00000377783.3:p.Arg41His
ENST00000407433.5:c.-272G>A ENSP00000385794.1:n.-272G>A
ENST00000472684.1:c.-272G>A ENSP00000419616.1:n.-272G>A
NM_000313.3:c.122G>A , LRG_572t1:c.122G>A NP_000304.2:p.Arg41His
NM_001314077.1:c.218G>A , LRG_572t2:c.218G>A NP_001301006.1:p.Arg73His
NM_000313.4:c.122G>A MANE Select NP_000304.2:p.Arg41His
NM_001314077.2:c.218G>A NP_001301006.1:p.Arg73His