Canonical Allele Identifier: CA78485162

Gene: PROS1

Linked Data

• dbSNP Id: rs1013440752
• gnomAD v2: 3-93617144-G-A
• gnomAD v3: 3-93898300-G-A
• gnomAD v4: 3-93898300-G-A
• MyVariant Identifiers: chr3:g.93617144G>A (hg19) ; chr3:g.93898300G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93898300G>A , CM000665.2:g.93898300G>A	GRCh38
NC_000003.11:g.93617144G>A , CM000665.1:g.93617144G>A	GRCh37
NC_000003.10:g.95099834G>A	NCBI36
NG_009813.1:g.80791C>T , LRG_572:g.80791C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000348974.5:c.849+148C>T	ENSP00000330021.7:n.849+148C>T
ENST00000394236.9:c.849+148C>T MANE Select	ENSP00000377783.3:n.849+148C>T
ENST00000407433.6:c.804+148C>T	ENSP00000385794.2:n.804+148C>T
ENST00000647936.1:c.849+148C>T	ENSP00000496822.1:n.849+148C>T
ENST00000648381.1:n.1017+148C>T
ENST00000648853.1:c.807+148C>T	ENSP00000497262.1:n.807+148C>T
ENST00000649103.1:c.948+148C>T	ENSP00000497962.1:n.948+148C>T
ENST00000650591.1:c.945+148C>T	ENSP00000497376.1:n.945+148C>T
ENST00000394236.7:c.849+148C>T	ENSP00000377783.3:n.849+148C>T
ENST00000407433.5:c.456+148C>T	ENSP00000385794.1:n.456+148C>T
NM_000313.3:c.849+148C>T , LRG_572t1:c.849+148C>T	NP_000304.2:n.849+148C>T
NM_001314077.1:c.945+148C>T , LRG_572t2:c.945+148C>T	NP_001301006.1:n.945+148C>T
NM_000313.4:c.849+148C>T MANE Select	NP_000304.2:n.849+148C>T
NM_001314077.2:c.945+148C>T	NP_001301006.1:n.945+148C>T