Canonical Allele Identifier: CA2503411

Gene: PROS1

Linked Data

• ClinVar Variation Id: 1941165
• ClinVar RCV Id: RCV002643004
• dbSNP Id: rs149129715
• ExAC: 3:93619688 G / A
• gnomAD v2: 3-93619688-G-A
• gnomAD v3: 3-93900844-G-A
• gnomAD v4: 3-93900844-G-A
• MyVariant Identifiers: chr3:g.93619688G>A (hg19) ; chr3:g.93900844G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93900844G>A , CM000665.2:g.93900844G>A	GRCh38
NC_000003.11:g.93619688G>A , CM000665.1:g.93619688G>A	GRCh37
NC_000003.10:g.95102378G>A	NCBI36
NG_009813.1:g.78247C>T , LRG_572:g.78247C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.687C>T	ENSP00000330021.7:p.Pro229=
ENST00000394236.9:c.687C>T MANE Select	ENSP00000377783.3:p.Pro229=
ENST00000407433.6:c.642C>T	ENSP00000385794.2:p.Pro214=
ENST00000647936.1:c.687C>T	ENSP00000496822.1:p.Pro229=
ENST00000648381.1:n.855C>T
ENST00000648853.1:c.645C>T	ENSP00000497262.1:p.Pro215=
ENST00000649103.1:c.786C>T	ENSP00000497962.1:n.786C>T
ENST00000650591.1:c.783C>T	ENSP00000497376.1:p.Pro261=
ENST00000394236.7:c.687C>T	ENSP00000377783.3:p.Pro229=
ENST00000407433.5:c.294C>T	ENSP00000385794.1:p.Pro98=
NM_000313.3:c.687C>T , LRG_572t1:c.687C>T	NP_000304.2:p.Pro229=
NM_001314077.1:c.783C>T , LRG_572t2:c.783C>T	NP_001301006.1:p.Pro261=
NM_000313.4:c.687C>T MANE Select	NP_000304.2:p.Pro229=
NM_001314077.2:c.783C>T	NP_001301006.1:p.Pro261=