Canonical Allele Identifier: CA353671453

Gene: PROS1

Linked Data

• dbSNP Id: rs1357094789
• gnomAD v3: 3-93877166-G-A
• gnomAD v4: 3-93877166-G-A
• MyVariant Identifiers: chr3:g.93596010G>A (hg19) ; chr3:g.93877166G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93877166G>A , CM000665.2:g.93877166G>A	GRCh38
NC_000003.11:g.93596010G>A , CM000665.1:g.93596010G>A	GRCh37
NC_000003.10:g.95078700G>A	NCBI36
NG_009813.1:g.101925C>T , LRG_572:g.101925C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000348974.5:c.1670C>T	ENSP00000330021.7:p.Thr557Ile
ENST00000394236.9:c.1670C>T MANE Select	ENSP00000377783.3:p.Thr557Ile
ENST00000407433.6:c.1625C>T	ENSP00000385794.2:p.Thr542Ile
ENST00000647936.1:c.1644+1997C>T	ENSP00000496822.1:n.1644+1997C>T
ENST00000648381.1:n.1838C>T
ENST00000648853.1:c.1628C>T	ENSP00000497262.1:p.Thr543Ile
ENST00000649103.1:c.1769C>T	ENSP00000497962.1:n.1769C>T
ENST00000649585.1:c.613C>T	ENSP00000498163.1:n.613C>T
ENST00000650591.1:c.1766C>T	ENSP00000497376.1:p.Thr589Ile
ENST00000394236.7:c.1670C>T	ENSP00000377783.3:p.Thr557Ile
ENST00000407433.5:c.1277C>T	ENSP00000385794.1:p.Thr426Ile
NM_000313.3:c.1670C>T , LRG_572t1:c.1670C>T	NP_000304.2:p.Thr557Ile
NM_001314077.1:c.1766C>T , LRG_572t2:c.1766C>T	NP_001301006.1:p.Thr589Ile
NM_000313.4:c.1670C>T MANE Select	NP_000304.2:p.Thr557Ile
NM_001314077.2:c.1766C>T	NP_001301006.1:p.Thr589Ile