Canonical Allele Identifier: CA434459293

Gene: PROS1

Linked Data

• ClinVar Variation Id: 1899019
• ClinVar RCV Id: RCV002575253
• dbSNP Id: rs1384074710
• gnomAD v4: 3-93892948-A-G
• MyVariant Identifiers: chr3:g.93611792A>G (hg19) ; chr3:g.93892948A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93892948A>G , CM000665.2:g.93892948A>G	GRCh38
NC_000003.11:g.93611792A>G , CM000665.1:g.93611792A>G	GRCh37
NC_000003.10:g.95094482A>G	NCBI36
NG_009813.1:g.86143T>C , LRG_572:g.86143T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.1140T>C	ENSP00000330021.7:p.Asn380=
ENST00000394236.9:c.1140T>C MANE Select	ENSP00000377783.3:p.Asn380=
ENST00000407433.6:c.1095T>C	ENSP00000385794.2:p.Asn365=
ENST00000647936.1:c.1140T>C	ENSP00000496822.1:p.Asn380=
ENST00000648381.1:n.1308T>C
ENST00000648853.1:c.1098T>C	ENSP00000497262.1:p.Asn366=
ENST00000649103.1:c.1239T>C	ENSP00000497962.1:n.1239T>C
ENST00000650591.1:c.1236T>C	ENSP00000497376.1:p.Asn412=
ENST00000394236.7:c.1140T>C	ENSP00000377783.3:p.Asn380=
ENST00000407433.5:c.747T>C	ENSP00000385794.1:p.Asn249=
NM_000313.3:c.1140T>C , LRG_572t1:c.1140T>C	NP_000304.2:p.Asn380=
NM_001314077.1:c.1236T>C , LRG_572t2:c.1236T>C	NP_001301006.1:p.Asn412=
NM_000313.4:c.1140T>C MANE Select	NP_000304.2:p.Asn380=
NM_001314077.2:c.1236T>C	NP_001301006.1:p.Asn412=