Canonical Allele Identifier: CA353672552

Gene: PROS1

Linked Data

• dbSNP Id: rs1393811765
• gnomAD v3: 3-93896599-T-A
• gnomAD v4: 3-93896599-T-A
• MyVariant Identifiers: chr3:g.93615443T>A (hg19) ; chr3:g.93896599T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93896599T>A , CM000665.2:g.93896599T>A	GRCh38
NC_000003.11:g.93615443T>A , CM000665.1:g.93615443T>A	GRCh37
NC_000003.10:g.95098133T>A	NCBI36
NG_009813.1:g.82492A>T , LRG_572:g.82492A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.942A>T	ENSP00000330021.7:p.Lys314Asn
ENST00000394236.9:c.942A>T MANE Select	ENSP00000377783.3:p.Lys314Asn
ENST00000407433.6:c.897A>T	ENSP00000385794.2:p.Lys299Asn
ENST00000647936.1:c.942A>T	ENSP00000496822.1:p.Lys314Asn
ENST00000648381.1:n.1110A>T
ENST00000648853.1:c.900A>T	ENSP00000497262.1:p.Lys300Asn
ENST00000649103.1:c.1041A>T	ENSP00000497962.1:n.1041A>T
ENST00000650591.1:c.1038A>T	ENSP00000497376.1:p.Lys346Asn
ENST00000394236.7:c.942A>T	ENSP00000377783.3:p.Lys314Asn
ENST00000407433.5:c.549A>T	ENSP00000385794.1:p.Lys183Asn
NM_000313.3:c.942A>T , LRG_572t1:c.942A>T	NP_000304.2:p.Lys314Asn
NM_001314077.1:c.1038A>T , LRG_572t2:c.1038A>T	NP_001301006.1:p.Lys346Asn
NM_000313.4:c.942A>T MANE Select	NP_000304.2:p.Lys314Asn
NM_001314077.2:c.1038A>T	NP_001301006.1:p.Lys346Asn