Canonical Allele Identifier: CA2503300

Gene: PROS1

Linked Data

• dbSNP Id: rs754439805
• ExAC: 3:93611973 A / G
• gnomAD v2: 3-93611973-A-G
• gnomAD v3: 3-93893129-A-G
• gnomAD v4: 3-93893129-A-G
• MyVariant Identifiers: chr3:g.93611973A>G (hg19) ; chr3:g.93893129A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93893129A>G , CM000665.2:g.93893129A>G	GRCh38
NC_000003.11:g.93611973A>G , CM000665.1:g.93611973A>G	GRCh37
NC_000003.10:g.95094663A>G	NCBI36
NG_009813.1:g.85962T>C , LRG_572:g.85962T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000348974.5:c.966-7T>C	ENSP00000330021.7:n.966-7T>C
ENST00000394236.9:c.966-7T>C MANE Select	ENSP00000377783.3:n.966-7T>C
ENST00000407433.6:c.921-7T>C	ENSP00000385794.2:n.921-7T>C
ENST00000647936.1:c.966-7T>C	ENSP00000496822.1:n.966-7T>C
ENST00000648381.1:n.1134-7T>C
ENST00000648853.1:c.924-7T>C	ENSP00000497262.1:n.924-7T>C
ENST00000649103.1:c.1065-7T>C	ENSP00000497962.1:n.1065-7T>C
ENST00000650591.1:c.1062-7T>C	ENSP00000497376.1:n.1062-7T>C
ENST00000394236.7:c.966-7T>C	ENSP00000377783.3:n.966-7T>C
ENST00000407433.5:c.573-7T>C	ENSP00000385794.1:n.573-7T>C
NM_000313.3:c.966-7T>C , LRG_572t1:c.966-7T>C	NP_000304.2:n.966-7T>C
NM_001314077.1:c.1062-7T>C , LRG_572t2:c.1062-7T>C	NP_001301006.1:n.1062-7T>C
NM_000313.4:c.966-7T>C MANE Select	NP_000304.2:n.966-7T>C
NM_001314077.2:c.1062-7T>C	NP_001301006.1:n.1062-7T>C