Canonical Allele Identifier: CA123032
Gene: PROS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 13318
ClinVar RCV Id: RCV000014246
dbSNP Id: rs121918474

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93905799T>C , CM000665.2:g.93905799T>C GRCh38
NC_000003.11:g.93624643T>C , CM000665.1:g.93624643T>C GRCh37
NC_000003.10:g.95107333T>C NCBI36
NG_009813.1:g.73292A>G , LRG_572:g.73292A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000348974.4:c.682A>G ENSP00000330021.6:p.Lys228Glu
ENST00000394236.7:c.586A>G ENSP00000377783.3:p.Lys196Glu
ENST00000407433.5:c.193A>G ENSP00000385794.1:p.Lys65Glu
NM_000313.3:c.586A>G , LRG_572t1:c.586A>G NP_000304.2:p.Lys196Glu
NM_001314077.1:c.682A>G , LRG_572t2:c.682A>G NP_001301006.1:p.Lys228Glu
NM_000313.4:c.586A>G MANE Select NP_000304.2:p.Lys196Glu
NM_001314077.2:c.682A>G NP_001301006.1:p.Lys228Glu