Canonical Allele Identifier: CA353669459

Gene: PROS1

Linked Data

• dbSNP Id: rs1220553873
• gnomAD v2: 3-93593120-G-A
• gnomAD v4: 3-93874276-G-A
• MyVariant Identifiers: chr3:g.93593120G>A (hg19) ; chr3:g.93874276G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93874276G>A , CM000665.2:g.93874276G>A	GRCh38
NC_000003.11:g.93593120G>A , CM000665.1:g.93593120G>A	GRCh37
NC_000003.10:g.95075810G>A	NCBI36
NG_009813.1:g.104815C>T , LRG_572:g.104815C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.2000C>T	ENSP00000330021.7:p.Pro667Leu
ENST00000394236.9:c.2000C>T MANE Select	ENSP00000377783.3:p.Pro667Leu
ENST00000407433.6:c.1955C>T	ENSP00000385794.2:p.Pro652Leu
ENST00000647936.1:c.*103C>T	ENSP00000496822.1:n.*103C>T
ENST00000648381.1:n.2168C>T
ENST00000648853.1:c.1958C>T	ENSP00000497262.1:p.Pro653Leu
ENST00000650591.1:c.2096C>T	ENSP00000497376.1:p.Pro699Leu
ENST00000394236.7:c.2000C>T	ENSP00000377783.3:p.Pro667Leu
ENST00000407433.5:c.1607C>T	ENSP00000385794.1:p.Pro536Leu
NM_000313.3:c.2000C>T , LRG_572t1:c.2000C>T	NP_000304.2:p.Pro667Leu
NM_001314077.1:c.2096C>T , LRG_572t2:c.2096C>T	NP_001301006.1:p.Pro699Leu
NM_000313.4:c.2000C>T MANE Select	NP_000304.2:p.Pro667Leu
NM_001314077.2:c.2096C>T	NP_001301006.1:p.Pro699Leu