Canonical Allele Identifier: CA78520066

Gene: PROS1

Linked Data

• dbSNP Id: rs1037774470
• gnomAD v2: 3-93592950-A-G
• gnomAD v3: 3-93874106-A-G
• gnomAD v4: 3-93874106-A-G
• MyVariant Identifiers: chr3:g.93592950A>G (hg19) ; chr3:g.93874106A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93874106A>G , CM000665.2:g.93874106A>G	GRCh38
NC_000003.11:g.93592950A>G , CM000665.1:g.93592950A>G	GRCh37
NC_000003.10:g.95075640A>G	NCBI36
NG_009813.1:g.104985T>C , LRG_572:g.104985T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.*1+138T>C	ENSP00000330021.7:n.*1+138T>C
ENST00000394236.9:c.*139T>C MANE Select	ENSP00000377783.3:n.*139T>C
ENST00000407433.6:c.*139T>C	ENSP00000385794.2:n.*139T>C
ENST00000647936.1:c.*273T>C	ENSP00000496822.1:n.*273T>C
ENST00000648381.1:n.2338T>C
ENST00000648853.1:c.*139T>C	ENSP00000497262.1:n.*139T>C
ENST00000650591.1:c.*139T>C	ENSP00000497376.1:n.*139T>C
ENST00000394236.7:c.*139T>C	ENSP00000377783.3:n.*139T>C
ENST00000407433.5:c.*139T>C	ENSP00000385794.1:n.*139T>C
NM_000313.3:c.*139T>C , LRG_572t1:c.*139T>C	NP_000304.2:n.*139T>C
NM_001314077.1:c.*139T>C , LRG_572t2:c.*139T>C	NP_001301006.1:n.*139T>C
NM_000313.4:c.*139T>C MANE Select	NP_000304.2:n.*139T>C
NM_001314077.2:c.*139T>C	NP_001301006.1:n.*139T>C