Canonical Allele Identifier: CA2503088

Gene: PROS1

Linked Data

• dbSNP Id: rs368612500
• ExAC: 3:93595837 C / T
• gnomAD v2: 3-93595837-C-T
• gnomAD v3: 3-93876993-C-T
• gnomAD v4: 3-93876993-C-T
• MyVariant Identifiers: chr3:g.93595837C>T (hg19) ; chr3:g.93876993C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93876993C>T , CM000665.2:g.93876993C>T	GRCh38
NC_000003.11:g.93595837C>T , CM000665.1:g.93595837C>T	GRCh37
NC_000003.10:g.95078527C>T	NCBI36
NG_009813.1:g.102098G>A , LRG_572:g.102098G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.1843G>A	ENSP00000330021.7:p.Val615Met
ENST00000394236.9:c.1843G>A MANE Select	ENSP00000377783.3:p.Val615Met
ENST00000407433.6:c.1798G>A	ENSP00000385794.2:p.Val600Met
ENST00000647936.1:c.1644+2170G>A	ENSP00000496822.1:n.1644+2170G>A
ENST00000648381.1:n.2011G>A
ENST00000648853.1:c.1801G>A	ENSP00000497262.1:p.Val601Met
ENST00000650591.1:c.1939G>A	ENSP00000497376.1:p.Val647Met
ENST00000394236.7:c.1843G>A	ENSP00000377783.3:p.Val615Met
ENST00000407433.5:c.1450G>A	ENSP00000385794.1:p.Val484Met
NM_000313.3:c.1843G>A , LRG_572t1:c.1843G>A	NP_000304.2:p.Val615Met
NM_001314077.1:c.1939G>A , LRG_572t2:c.1939G>A	NP_001301006.1:p.Val647Met
NM_000313.4:c.1843G>A MANE Select	NP_000304.2:p.Val615Met
NM_001314077.2:c.1939G>A	NP_001301006.1:p.Val647Met