Canonical Allele Identifier: CA353669645

Gene: PROS1

Linked Data

• dbSNP Id: rs1488943296
• gnomAD v2: 3-93593157-T-C
• gnomAD v4: 3-93874313-T-C
• MyVariant Identifiers: chr3:g.93593157T>C (hg19) ; chr3:g.93874313T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93874313T>C , CM000665.2:g.93874313T>C	GRCh38
NC_000003.11:g.93593157T>C , CM000665.1:g.93593157T>C	GRCh37
NC_000003.10:g.95075847T>C	NCBI36
NG_009813.1:g.104778A>G , LRG_572:g.104778A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.1963A>G	ENSP00000330021.7:p.Ile655Val
ENST00000394236.9:c.1963A>G MANE Select	ENSP00000377783.3:p.Ile655Val
ENST00000407433.6:c.1918A>G	ENSP00000385794.2:p.Ile640Val
ENST00000647936.1:c.*66A>G	ENSP00000496822.1:n.*66A>G
ENST00000648381.1:n.2131A>G
ENST00000648853.1:c.1921A>G	ENSP00000497262.1:p.Ile641Val
ENST00000650591.1:c.2059A>G	ENSP00000497376.1:p.Ile687Val
ENST00000394236.7:c.1963A>G	ENSP00000377783.3:p.Ile655Val
ENST00000407433.5:c.1570A>G	ENSP00000385794.1:p.Ile524Val
NM_000313.3:c.1963A>G , LRG_572t1:c.1963A>G	NP_000304.2:p.Ile655Val
NM_001314077.1:c.2059A>G , LRG_572t2:c.2059A>G	NP_001301006.1:p.Ile687Val
NM_000313.4:c.1963A>G MANE Select	NP_000304.2:p.Ile655Val
NM_001314077.2:c.2059A>G	NP_001301006.1:p.Ile687Val