Canonical Allele Identifier: CA353672714

Gene: PROS1

Linked Data

• dbSNP Id: rs1708506328
• gnomAD v3: 3-93896672-G-A
• gnomAD v4: 3-93896672-G-A
• MyVariant Identifiers: chr3:g.93615516G>A (hg19) ; chr3:g.93896672G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93896672G>A , CM000665.2:g.93896672G>A	GRCh38
NC_000003.11:g.93615516G>A , CM000665.1:g.93615516G>A	GRCh37
NC_000003.10:g.95098206G>A	NCBI36
NG_009813.1:g.82419C>T , LRG_572:g.82419C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.869C>T	ENSP00000330021.7:p.Pro290Leu
ENST00000394236.9:c.869C>T MANE Select	ENSP00000377783.3:p.Pro290Leu
ENST00000407433.6:c.824C>T	ENSP00000385794.2:p.Pro275Leu
ENST00000647936.1:c.869C>T	ENSP00000496822.1:p.Pro290Leu
ENST00000648381.1:n.1037C>T
ENST00000648853.1:c.827C>T	ENSP00000497262.1:p.Pro276Leu
ENST00000649103.1:c.968C>T	ENSP00000497962.1:n.968C>T
ENST00000650591.1:c.965C>T	ENSP00000497376.1:p.Pro322Leu
ENST00000394236.7:c.869C>T	ENSP00000377783.3:p.Pro290Leu
ENST00000407433.5:c.476C>T	ENSP00000385794.1:p.Pro159Leu
NM_000313.3:c.869C>T , LRG_572t1:c.869C>T	NP_000304.2:p.Pro290Leu
NM_001314077.1:c.965C>T , LRG_572t2:c.965C>T	NP_001301006.1:p.Pro322Leu
NM_000313.4:c.869C>T MANE Select	NP_000304.2:p.Pro290Leu
NM_001314077.2:c.965C>T	NP_001301006.1:p.Pro322Leu