Canonical Allele Identifier: CA353672334

Gene: PROS1

Linked Data

• gnomAD v4: 3-93893051-T-C
• COSMIC: COSM4584643
• MyVariant Identifiers: chr3:g.93611895T>C (hg19) ; chr3:g.93893051T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93893051T>C , CM000665.2:g.93893051T>C	GRCh38
NC_000003.11:g.93611895T>C , CM000665.1:g.93611895T>C	GRCh37
NC_000003.10:g.95094585T>C	NCBI36
NG_009813.1:g.86040A>G , LRG_572:g.86040A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.1037A>G	ENSP00000330021.7:p.His346Arg
ENST00000394236.9:c.1037A>G MANE Select	ENSP00000377783.3:p.His346Arg
ENST00000407433.6:c.992A>G	ENSP00000385794.2:p.His331Arg
ENST00000647936.1:c.1037A>G	ENSP00000496822.1:p.His346Arg
ENST00000648381.1:n.1205A>G
ENST00000648853.1:c.995A>G	ENSP00000497262.1:p.His332Arg
ENST00000649103.1:c.1136A>G	ENSP00000497962.1:n.1136A>G
ENST00000650591.1:c.1133A>G	ENSP00000497376.1:p.His378Arg
ENST00000394236.7:c.1037A>G	ENSP00000377783.3:p.His346Arg
ENST00000407433.5:c.644A>G	ENSP00000385794.1:p.His215Arg
NM_000313.3:c.1037A>G , LRG_572t1:c.1037A>G	NP_000304.2:p.His346Arg
NM_001314077.1:c.1133A>G , LRG_572t2:c.1133A>G	NP_001301006.1:p.His378Arg
NM_000313.4:c.1037A>G MANE Select	NP_000304.2:p.His346Arg
NM_001314077.2:c.1133A>G	NP_001301006.1:p.His378Arg