Canonical Allele Identifier: CA544750400

Gene: PROS1

Linked Data

• dbSNP Id: rs775223052
• gnomAD v2: 3-93615378-C-A
• gnomAD v3: 3-93896534-C-A
• gnomAD v4: 3-93896534-C-A
• MyVariant Identifiers: chr3:g.93615378C>A (hg19) ; chr3:g.93896534C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93896534C>A , CM000665.2:g.93896534C>A	GRCh38
NC_000003.11:g.93615378C>A , CM000665.1:g.93615378C>A	GRCh37
NC_000003.10:g.95098068C>A	NCBI36
NG_009813.1:g.82557G>T , LRG_572:g.82557G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.965+42G>T	ENSP00000330021.7:n.965+42G>T
ENST00000394236.9:c.965+42G>T MANE Select	ENSP00000377783.3:n.965+42G>T
ENST00000407433.6:c.920+42G>T	ENSP00000385794.2:n.920+42G>T
ENST00000647936.1:c.965+42G>T	ENSP00000496822.1:n.965+42G>T
ENST00000648381.1:n.1133+42G>T
ENST00000648853.1:c.923+42G>T	ENSP00000497262.1:n.923+42G>T
ENST00000649103.1:c.1064+42G>T	ENSP00000497962.1:n.1064+42G>T
ENST00000650591.1:c.1061+42G>T	ENSP00000497376.1:n.1061+42G>T
ENST00000394236.7:c.965+42G>T	ENSP00000377783.3:n.965+42G>T
ENST00000407433.5:c.572+42G>T	ENSP00000385794.1:n.572+42G>T
NM_000313.3:c.965+42G>T , LRG_572t1:c.965+42G>T	NP_000304.2:n.965+42G>T
NM_001314077.1:c.1061+42G>T , LRG_572t2:c.1061+42G>T	NP_001301006.1:n.1061+42G>T
NM_000313.4:c.965+42G>T MANE Select	NP_000304.2:n.965+42G>T
NM_001314077.2:c.1061+42G>T	NP_001301006.1:n.1061+42G>T