Canonical Allele Identifier: CA353672591

Gene: PROS1

Linked Data

• dbSNP Id: rs1708505145
• gnomAD v3: 3-93896618-C-A
• gnomAD v4: 3-93896618-C-A
• MyVariant Identifiers: chr3:g.93615462C>A (hg19) ; chr3:g.93896618C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93896618C>A , CM000665.2:g.93896618C>A	GRCh38
NC_000003.11:g.93615462C>A , CM000665.1:g.93615462C>A	GRCh37
NC_000003.10:g.95098152C>A	NCBI36
NG_009813.1:g.82473G>T , LRG_572:g.82473G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.923G>T	ENSP00000330021.7:p.Gly308Val
ENST00000394236.9:c.923G>T MANE Select	ENSP00000377783.3:p.Gly308Val
ENST00000407433.6:c.878G>T	ENSP00000385794.2:p.Gly293Val
ENST00000647936.1:c.923G>T	ENSP00000496822.1:p.Gly308Val
ENST00000648381.1:n.1091G>T
ENST00000648853.1:c.881G>T	ENSP00000497262.1:p.Gly294Val
ENST00000649103.1:c.1022G>T	ENSP00000497962.1:n.1022G>T
ENST00000650591.1:c.1019G>T	ENSP00000497376.1:p.Gly340Val
ENST00000394236.7:c.923G>T	ENSP00000377783.3:p.Gly308Val
ENST00000407433.5:c.530G>T	ENSP00000385794.1:p.Gly177Val
NM_000313.3:c.923G>T , LRG_572t1:c.923G>T	NP_000304.2:p.Gly308Val
NM_001314077.1:c.1019G>T , LRG_572t2:c.1019G>T	NP_001301006.1:p.Gly340Val
NM_000313.4:c.923G>T MANE Select	NP_000304.2:p.Gly308Val
NM_001314077.2:c.1019G>T	NP_001301006.1:p.Gly340Val