Canonical Allele Identifier: CA353674602

Gene: PROS1

Linked Data

• dbSNP Id: rs1386488557
• gnomAD v2: 3-93646182-G-A
• gnomAD v4: 3-93927338-G-A
• MyVariant Identifiers: chr3:g.93646182G>A (hg19) ; chr3:g.93927338G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93927338G>A , CM000665.2:g.93927338G>A	GRCh38
NC_000003.11:g.93646182G>A , CM000665.1:g.93646182G>A	GRCh37
NC_000003.10:g.95128872G>A	NCBI36
NG_009813.1:g.51753C>T , LRG_572:g.51753C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000348974.5:c.146C>T	ENSP00000330021.7:p.Thr49Ile
ENST00000394236.9:c.146C>T MANE Select	ENSP00000377783.3:p.Thr49Ile
ENST00000407433.6:c.146C>T	ENSP00000385794.2:p.Thr49Ile
ENST00000472684.2:c.-248C>T	ENSP00000419616.2:n.-248C>T
ENST00000647936.1:c.146C>T	ENSP00000496822.1:p.Thr49Ile
ENST00000648381.1:n.314C>T
ENST00000648853.1:c.104C>T	ENSP00000497262.1:p.Thr35Ile
ENST00000649103.1:c.125C>T	ENSP00000497962.1:p.Thr42Ile
ENST00000650591.1:c.242C>T	ENSP00000497376.1:p.Thr81Ile
ENST00000348974.4:c.242C>T	ENSP00000330021.6:p.Thr81Ile
ENST00000394236.7:c.146C>T	ENSP00000377783.3:p.Thr49Ile
ENST00000407433.5:c.-248C>T	ENSP00000385794.1:n.-248C>T
ENST00000472684.1:c.-248C>T	ENSP00000419616.1:n.-248C>T
NM_000313.3:c.146C>T , LRG_572t1:c.146C>T	NP_000304.2:p.Thr49Ile
NM_001314077.1:c.242C>T , LRG_572t2:c.242C>T	NP_001301006.1:p.Thr81Ile
NM_000313.4:c.146C>T MANE Select	NP_000304.2:p.Thr49Ile
NM_001314077.2:c.242C>T	NP_001301006.1:p.Thr81Ile