Canonical Allele Identifier: CA544755975

Gene: PROS1

Linked Data

• dbSNP Id: rs1406951441
• gnomAD v2: 3-93592723-C-T
• gnomAD v3: 3-93873879-C-T
• gnomAD v4: 3-93873879-C-T
• MyVariant Identifiers: chr3:g.93592723C>T (hg19) ; chr3:g.93873879C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93873879C>T , CM000665.2:g.93873879C>T	GRCh38
NC_000003.11:g.93592723C>T , CM000665.1:g.93592723C>T	GRCh37
NC_000003.10:g.95075413C>T	NCBI36
NG_009813.1:g.105212G>A , LRG_572:g.105212G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.*1+365G>A	ENSP00000330021.7:n.*1+365G>A
ENST00000394236.9:c.*366G>A MANE Select	ENSP00000377783.3:n.*366G>A
ENST00000407433.6:c.*366G>A	ENSP00000385794.2:n.*366G>A
ENST00000647936.1:c.*500G>A	ENSP00000496822.1:n.*500G>A
ENST00000648381.1:n.2565G>A
ENST00000648853.1:c.*366G>A	ENSP00000497262.1:n.*366G>A
ENST00000650591.1:c.*366G>A	ENSP00000497376.1:n.*366G>A
ENST00000394236.7:c.*366G>A	ENSP00000377783.3:n.*366G>A
ENST00000407433.5:c.*366G>A	ENSP00000385794.1:n.*366G>A
NM_000313.3:c.*366G>A , LRG_572t1:c.*366G>A	NP_000304.2:n.*366G>A
NM_001314077.1:c.*366G>A , LRG_572t2:c.*366G>A	NP_001301006.1:n.*366G>A
NM_000313.4:c.*366G>A MANE Select	NP_000304.2:n.*366G>A
NM_001314077.2:c.*366G>A	NP_001301006.1:n.*366G>A