Canonical Allele Identifier: CA912683372

Gene: PROS1

Linked Data

• dbSNP Id: rs1352170902
• gnomAD v4: 3-93874187-T-G
• MyVariant Identifiers: chr3:g.93593031T>G (hg19) ; chr3:g.93874187T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93874187T>G , CM000665.2:g.93874187T>G	GRCh38
NC_000003.11:g.93593031T>G , CM000665.1:g.93593031T>G	GRCh37
NC_000003.10:g.95075721T>G	NCBI36
NG_009813.1:g.104904A>C , LRG_572:g.104904A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.*1+57A>C	ENSP00000330021.7:n.*1+57A>C
ENST00000394236.9:c.*58A>C MANE Select	ENSP00000377783.3:n.*58A>C
ENST00000407433.6:c.*58A>C	ENSP00000385794.2:n.*58A>C
ENST00000647936.1:c.*192A>C	ENSP00000496822.1:n.*192A>C
ENST00000648381.1:n.2257A>C
ENST00000648853.1:c.*58A>C	ENSP00000497262.1:n.*58A>C
ENST00000650591.1:c.*58A>C	ENSP00000497376.1:n.*58A>C
ENST00000394236.7:c.*58A>C	ENSP00000377783.3:n.*58A>C
ENST00000407433.5:c.*58A>C	ENSP00000385794.1:n.*58A>C
NM_000313.3:c.*58A>C , LRG_572t1:c.*58A>C	NP_000304.2:n.*58A>C
NM_001314077.1:c.*58A>C , LRG_572t2:c.*58A>C	NP_001301006.1:n.*58A>C
NM_000313.4:c.*58A>C MANE Select	NP_000304.2:n.*58A>C
NM_001314077.2:c.*58A>C	NP_001301006.1:n.*58A>C