Canonical Allele Identifier: CA353672048

Gene: PROS1

Linked Data

• dbSNP Id: rs1168804852
• gnomAD v2: 3-93598102-A-T
• gnomAD v4: 3-93879258-A-T
• MyVariant Identifiers: chr3:g.93598102A>T (hg19) ; chr3:g.93879258A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93879258A>T , CM000665.2:g.93879258A>T	GRCh38
NC_000003.11:g.93598102A>T , CM000665.1:g.93598102A>T	GRCh37
NC_000003.10:g.95080792A>T	NCBI36
NG_009813.1:g.99833T>A , LRG_572:g.99833T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.1549T>A	ENSP00000330021.7:p.Ser517Thr
ENST00000394236.9:c.1549T>A MANE Select	ENSP00000377783.3:p.Ser517Thr
ENST00000407433.6:c.1504T>A	ENSP00000385794.2:p.Ser502Thr
ENST00000647936.1:c.1549T>A	ENSP00000496822.1:p.Ser517Thr
ENST00000648381.1:n.1717T>A
ENST00000648853.1:c.1507T>A	ENSP00000497262.1:p.Ser503Thr
ENST00000649103.1:c.1648T>A	ENSP00000497962.1:n.1648T>A
ENST00000649585.1:c.492T>A	ENSP00000498163.1:n.492T>A
ENST00000650591.1:c.1645T>A	ENSP00000497376.1:p.Ser549Thr
ENST00000394236.7:c.1549T>A	ENSP00000377783.3:p.Ser517Thr
ENST00000407433.5:c.1156T>A	ENSP00000385794.1:p.Ser386Thr
NM_000313.3:c.1549T>A , LRG_572t1:c.1549T>A	NP_000304.2:p.Ser517Thr
NM_001314077.1:c.1645T>A , LRG_572t2:c.1645T>A	NP_001301006.1:p.Ser549Thr
NM_000313.4:c.1549T>A MANE Select	NP_000304.2:p.Ser517Thr
NM_001314077.2:c.1645T>A	NP_001301006.1:p.Ser549Thr