Canonical Allele Identifier: CA353669470

Gene: PROS1

Linked Data

• dbSNP Id: rs1298945000
• gnomAD v2: 3-93593123-C-A
• gnomAD v4: 3-93874279-C-A
• MyVariant Identifiers: chr3:g.93593123C>A (hg19) ; chr3:g.93874279C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93874279C>A , CM000665.2:g.93874279C>A	GRCh38
NC_000003.11:g.93593123C>A , CM000665.1:g.93593123C>A	GRCh37
NC_000003.10:g.95075813C>A	NCBI36
NG_009813.1:g.104812G>T , LRG_572:g.104812G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.1997G>T	ENSP00000330021.7:p.Cys666Phe
ENST00000394236.9:c.1997G>T MANE Select	ENSP00000377783.3:p.Cys666Phe
ENST00000407433.6:c.1952G>T	ENSP00000385794.2:p.Cys651Phe
ENST00000647936.1:c.*100G>T	ENSP00000496822.1:n.*100G>T
ENST00000648381.1:n.2165G>T
ENST00000648853.1:c.1955G>T	ENSP00000497262.1:p.Cys652Phe
ENST00000650591.1:c.2093G>T	ENSP00000497376.1:p.Cys698Phe
ENST00000394236.7:c.1997G>T	ENSP00000377783.3:p.Cys666Phe
ENST00000407433.5:c.1604G>T	ENSP00000385794.1:p.Cys535Phe
NM_000313.3:c.1997G>T , LRG_572t1:c.1997G>T	NP_000304.2:p.Cys666Phe
NM_001314077.1:c.2093G>T , LRG_572t2:c.2093G>T	NP_001301006.1:p.Cys698Phe
NM_000313.4:c.1997G>T MANE Select	NP_000304.2:p.Cys666Phe
NM_001314077.2:c.2093G>T	NP_001301006.1:p.Cys698Phe