Canonical Allele Identifier: CA78492913

Gene: PROS1

Linked Data

• dbSNP Id: rs8178657
• gnomAD v2: 3-93627776-T-C
• gnomAD v3: 3-93908932-T-C
• gnomAD v4: 3-93908932-T-C
• MyVariant Identifiers: chr3:g.93627776T>C (hg19) ; chr3:g.93908932T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93908932T>C , CM000665.2:g.93908932T>C	GRCh38
NC_000003.11:g.93627776T>C , CM000665.1:g.93627776T>C	GRCh37
NC_000003.10:g.95110466T>C	NCBI36
NG_009813.1:g.70159A>G , LRG_572:g.70159A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000348974.5:c.346+1687A>G	ENSP00000330021.7:n.346+1687A>G
ENST00000394236.9:c.346+1687A>G MANE Select	ENSP00000377783.3:n.346+1687A>G
ENST00000407433.6:c.346+1687A>G	ENSP00000385794.2:n.346+1687A>G
ENST00000472684.2:c.-48+1687A>G	ENSP00000419616.2:n.-48+1687A>G
ENST00000647936.1:c.346+1687A>G	ENSP00000496822.1:n.346+1687A>G
ENST00000648381.1:n.514+1687A>G
ENST00000648853.1:c.304+1687A>G	ENSP00000497262.1:n.304+1687A>G
ENST00000649103.1:c.445+1687A>G	ENSP00000497962.1:n.445+1687A>G
ENST00000650591.1:c.442+1687A>G	ENSP00000497376.1:n.442+1687A>G
ENST00000348974.4:c.442+1687A>G	ENSP00000330021.6:n.442+1687A>G
ENST00000394236.7:c.346+1687A>G	ENSP00000377783.3:n.346+1687A>G
ENST00000407433.5:c.-48+1687A>G	ENSP00000385794.1:n.-48+1687A>G
ENST00000472684.1:c.-48+1687A>G	ENSP00000419616.1:n.-48+1687A>G
ENST00000488658.1:n.539+1687A>G
NM_000313.3:c.346+1687A>G , LRG_572t1:c.346+1687A>G	NP_000304.2:n.346+1687A>G
NM_001314077.1:c.442+1687A>G , LRG_572t2:c.442+1687A>G	NP_001301006.1:n.442+1687A>G
NM_000313.4:c.346+1687A>G MANE Select	NP_000304.2:n.346+1687A>G
NM_001314077.2:c.442+1687A>G	NP_001301006.1:n.442+1687A>G