Canonical Allele Identifier: CA353671028

Gene: PROS1

Linked Data

• gnomAD v4: 3-93877052-A-G
• MyVariant Identifiers: chr3:g.93595896A>G (hg19) ; chr3:g.93877052A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93877052A>G , CM000665.2:g.93877052A>G	GRCh38
NC_000003.11:g.93595896A>G , CM000665.1:g.93595896A>G	GRCh37
NC_000003.10:g.95078586A>G	NCBI36
NG_009813.1:g.102039T>C , LRG_572:g.102039T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.1784T>C	ENSP00000330021.7:p.Ile595Thr
ENST00000394236.9:c.1784T>C MANE Select	ENSP00000377783.3:p.Ile595Thr
ENST00000407433.6:c.1739T>C	ENSP00000385794.2:p.Ile580Thr
ENST00000647936.1:c.1644+2111T>C	ENSP00000496822.1:n.1644+2111T>C
ENST00000648381.1:n.1952T>C
ENST00000648853.1:c.1742T>C	ENSP00000497262.1:p.Ile581Thr
ENST00000649103.1:c.1883T>C	ENSP00000497962.1:n.1883T>C
ENST00000649585.1:c.727T>C	ENSP00000498163.1:n.727T>C
ENST00000650591.1:c.1880T>C	ENSP00000497376.1:p.Ile627Thr
ENST00000394236.7:c.1784T>C	ENSP00000377783.3:p.Ile595Thr
ENST00000407433.5:c.1391T>C	ENSP00000385794.1:p.Ile464Thr
NM_000313.3:c.1784T>C , LRG_572t1:c.1784T>C	NP_000304.2:p.Ile595Thr
NM_001314077.1:c.1880T>C , LRG_572t2:c.1880T>C	NP_001301006.1:p.Ile627Thr
NM_000313.4:c.1784T>C MANE Select	NP_000304.2:p.Ile595Thr
NM_001314077.2:c.1880T>C	NP_001301006.1:p.Ile627Thr