Canonical Allele Identifier: CA353669360

Gene: PROS1

Linked Data

• ClinVar Variation Id: 581192
• ClinVar RCV Id: RCV000704946
• dbSNP Id: rs1465989734
• gnomAD v2: 3-93593102-G-T
• gnomAD v4: 3-93874258-G-T
• MyVariant Identifiers: chr3:g.93593102G>T (hg19) ; chr3:g.93874258G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93874258G>T , CM000665.2:g.93874258G>T	GRCh38
NC_000003.11:g.93593102G>T , CM000665.1:g.93593102G>T	GRCh37
NC_000003.10:g.95075792G>T	NCBI36
NG_009813.1:g.104833C>A , LRG_572:g.104833C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000348974.5:c.2018C>A	ENSP00000330021.7:p.Thr673Lys
ENST00000394236.9:c.2018C>A MANE Select	ENSP00000377783.3:p.Thr673Lys
ENST00000407433.6:c.1973C>A	ENSP00000385794.2:p.Thr658Lys
ENST00000647936.1:c.*121C>A	ENSP00000496822.1:n.*121C>A
ENST00000648381.1:n.2186C>A
ENST00000648853.1:c.1976C>A	ENSP00000497262.1:p.Thr659Lys
ENST00000650591.1:c.2114C>A	ENSP00000497376.1:p.Thr705Lys
ENST00000394236.7:c.2018C>A	ENSP00000377783.3:p.Thr673Lys
ENST00000407433.5:c.1625C>A	ENSP00000385794.1:p.Thr542Lys
NM_000313.3:c.2018C>A , LRG_572t1:c.2018C>A	NP_000304.2:p.Thr673Lys
NM_001314077.1:c.2114C>A , LRG_572t2:c.2114C>A	NP_001301006.1:p.Thr705Lys
NM_000313.4:c.2018C>A MANE Select	NP_000304.2:p.Thr673Lys
NM_001314077.2:c.2114C>A	NP_001301006.1:p.Thr705Lys