Canonical Allele Identifier: CA353672349

Gene: PROS1

Linked Data

• ClinVar Variation Id: 2635067
• ClinVar RCV Id: RCV003392931
• dbSNP Id: rs773309134
• gnomAD v3: 3-93893058-T-C
• gnomAD v4: 3-93893058-T-C
• MyVariant Identifiers: chr3:g.93611902T>C (hg19) ; chr3:g.93893058T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93893058T>C , CM000665.2:g.93893058T>C	GRCh38
NC_000003.11:g.93611902T>C , CM000665.1:g.93611902T>C	GRCh37
NC_000003.10:g.95094592T>C	NCBI36
NG_009813.1:g.86033A>G , LRG_572:g.86033A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.1030A>G	ENSP00000330021.7:p.Ile344Val
ENST00000394236.9:c.1030A>G MANE Select	ENSP00000377783.3:p.Ile344Val
ENST00000407433.6:c.985A>G	ENSP00000385794.2:p.Ile329Val
ENST00000647936.1:c.1030A>G	ENSP00000496822.1:p.Ile344Val
ENST00000648381.1:n.1198A>G
ENST00000648853.1:c.988A>G	ENSP00000497262.1:p.Ile330Val
ENST00000649103.1:c.1129A>G	ENSP00000497962.1:n.1129A>G
ENST00000650591.1:c.1126A>G	ENSP00000497376.1:p.Ile376Val
ENST00000394236.7:c.1030A>G	ENSP00000377783.3:p.Ile344Val
ENST00000407433.5:c.637A>G	ENSP00000385794.1:p.Ile213Val
NM_000313.3:c.1030A>G , LRG_572t1:c.1030A>G	NP_000304.2:p.Ile344Val
NM_001314077.1:c.1126A>G , LRG_572t2:c.1126A>G	NP_001301006.1:p.Ile376Val
NM_000313.4:c.1030A>G MANE Select	NP_000304.2:p.Ile344Val
NM_001314077.2:c.1126A>G	NP_001301006.1:p.Ile376Val