Canonical Allele Identifier: CA353672531

Gene: PROS1

Linked Data

• dbSNP Id: rs2107155213
• gnomAD v4: 3-93896589-G-A
• MyVariant Identifiers: chr3:g.93615433G>A (hg19) ; chr3:g.93896589G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93896589G>A , CM000665.2:g.93896589G>A	GRCh38
NC_000003.11:g.93615433G>A , CM000665.1:g.93615433G>A	GRCh37
NC_000003.10:g.95098123G>A	NCBI36
NG_009813.1:g.82502C>T , LRG_572:g.82502C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000348974.5:c.952C>T	ENSP00000330021.7:p.Pro318Ser
ENST00000394236.9:c.952C>T MANE Select	ENSP00000377783.3:p.Pro318Ser
ENST00000407433.6:c.907C>T	ENSP00000385794.2:p.Pro303Ser
ENST00000647936.1:c.952C>T	ENSP00000496822.1:p.Pro318Ser
ENST00000648381.1:n.1120C>T
ENST00000648853.1:c.910C>T	ENSP00000497262.1:p.Pro304Ser
ENST00000649103.1:c.1051C>T	ENSP00000497962.1:n.1051C>T
ENST00000650591.1:c.1048C>T	ENSP00000497376.1:p.Pro350Ser
ENST00000394236.7:c.952C>T	ENSP00000377783.3:p.Pro318Ser
ENST00000407433.5:c.559C>T	ENSP00000385794.1:p.Pro187Ser
NM_000313.3:c.952C>T , LRG_572t1:c.952C>T	NP_000304.2:p.Pro318Ser
NM_001314077.1:c.1048C>T , LRG_572t2:c.1048C>T	NP_001301006.1:p.Pro350Ser
NM_000313.4:c.952C>T MANE Select	NP_000304.2:p.Pro318Ser
NM_001314077.2:c.1048C>T	NP_001301006.1:p.Pro350Ser