Canonical Allele Identifier: CA353672336

Gene: PROS1

Linked Data

• dbSNP Id: rs1187406870
• gnomAD v2: 3-93611896-G-T
• gnomAD v3: 3-93893052-G-T
• gnomAD v4: 3-93893052-G-T
• MyVariant Identifiers: chr3:g.93611896G>T (hg19) ; chr3:g.93893052G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93893052G>T , CM000665.2:g.93893052G>T	GRCh38
NC_000003.11:g.93611896G>T , CM000665.1:g.93611896G>T	GRCh37
NC_000003.10:g.95094586G>T	NCBI36
NG_009813.1:g.86039C>A , LRG_572:g.86039C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.1036C>A	ENSP00000330021.7:p.His346Asn
ENST00000394236.9:c.1036C>A MANE Select	ENSP00000377783.3:p.His346Asn
ENST00000407433.6:c.991C>A	ENSP00000385794.2:p.His331Asn
ENST00000647936.1:c.1036C>A	ENSP00000496822.1:p.His346Asn
ENST00000648381.1:n.1204C>A
ENST00000648853.1:c.994C>A	ENSP00000497262.1:p.His332Asn
ENST00000649103.1:c.1135C>A	ENSP00000497962.1:n.1135C>A
ENST00000650591.1:c.1132C>A	ENSP00000497376.1:p.His378Asn
ENST00000394236.7:c.1036C>A	ENSP00000377783.3:p.His346Asn
ENST00000407433.5:c.643C>A	ENSP00000385794.1:p.His215Asn
NM_000313.3:c.1036C>A , LRG_572t1:c.1036C>A	NP_000304.2:p.His346Asn
NM_001314077.1:c.1132C>A , LRG_572t2:c.1132C>A	NP_001301006.1:p.His378Asn
NM_000313.4:c.1036C>A MANE Select	NP_000304.2:p.His346Asn
NM_001314077.2:c.1132C>A	NP_001301006.1:p.His378Asn