Canonical Allele Identifier: CA2503584

Gene: PROS1

Linked Data

• ClinVar Variation Id: 626998
• ClinVar RCV Id: RCV000851694
• dbSNP Id: rs779469907
• ExAC: 3:93646191 A / G
• gnomAD v2: 3-93646191-A-G
• gnomAD v3: 3-93927347-A-G
• gnomAD v4: 3-93927347-A-G
• MyVariant Identifiers: chr3:g.93646191A>G (hg19) ; chr3:g.93927347A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93927347A>G , CM000665.2:g.93927347A>G	GRCh38
NC_000003.11:g.93646191A>G , CM000665.1:g.93646191A>G	GRCh37
NC_000003.10:g.95128881A>G	NCBI36
NG_009813.1:g.51744T>C , LRG_572:g.51744T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.137T>C	ENSP00000330021.7:p.Leu46Pro
ENST00000394236.9:c.137T>C MANE Select	ENSP00000377783.3:p.Leu46Pro
ENST00000407433.6:c.137T>C	ENSP00000385794.2:p.Leu46Pro
ENST00000472684.2:c.-257T>C	ENSP00000419616.2:n.-257T>C
ENST00000647936.1:c.137T>C	ENSP00000496822.1:p.Leu46Pro
ENST00000648381.1:n.305T>C
ENST00000648853.1:c.95T>C	ENSP00000497262.1:p.Leu32Pro
ENST00000649103.1:c.116T>C	ENSP00000497962.1:p.Leu39Pro
ENST00000650591.1:c.233T>C	ENSP00000497376.1:p.Leu78Pro
ENST00000348974.4:c.233T>C	ENSP00000330021.6:p.Leu78Pro
ENST00000394236.7:c.137T>C	ENSP00000377783.3:p.Leu46Pro
ENST00000407433.5:c.-257T>C	ENSP00000385794.1:n.-257T>C
ENST00000472684.1:c.-257T>C	ENSP00000419616.1:n.-257T>C
NM_000313.3:c.137T>C , LRG_572t1:c.137T>C	NP_000304.2:p.Leu46Pro
NM_001314077.1:c.233T>C , LRG_572t2:c.233T>C	NP_001301006.1:p.Leu78Pro
NM_000313.4:c.137T>C MANE Select	NP_000304.2:p.Leu46Pro
NM_001314077.2:c.233T>C	NP_001301006.1:p.Leu78Pro