Canonical Allele Identifier: CA78520059

Gene: PROS1

Linked Data

• dbSNP Id: rs555142434
• gnomAD v2: 3-93592894-G-T
• gnomAD v3: 3-93874050-G-T
• gnomAD v4: 3-93874050-G-T
• MyVariant Identifiers: chr3:g.93592894G>T (hg19) ; chr3:g.93874050G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93874050G>T , CM000665.2:g.93874050G>T	GRCh38
NC_000003.11:g.93592894G>T , CM000665.1:g.93592894G>T	GRCh37
NC_000003.10:g.95075584G>T	NCBI36
NG_009813.1:g.105041C>A , LRG_572:g.105041C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.*1+194C>A	ENSP00000330021.7:n.*1+194C>A
ENST00000394236.9:c.*195C>A MANE Select	ENSP00000377783.3:n.*195C>A
ENST00000407433.6:c.*195C>A	ENSP00000385794.2:n.*195C>A
ENST00000647936.1:c.*329C>A	ENSP00000496822.1:n.*329C>A
ENST00000648381.1:n.2394C>A
ENST00000648853.1:c.*195C>A	ENSP00000497262.1:n.*195C>A
ENST00000650591.1:c.*195C>A	ENSP00000497376.1:n.*195C>A
ENST00000394236.7:c.*195C>A	ENSP00000377783.3:n.*195C>A
ENST00000407433.5:c.*195C>A	ENSP00000385794.1:n.*195C>A
NM_000313.3:c.*195C>A , LRG_572t1:c.*195C>A	NP_000304.2:n.*195C>A
NM_001314077.1:c.*195C>A , LRG_572t2:c.*195C>A	NP_001301006.1:n.*195C>A
NM_000313.4:c.*195C>A MANE Select	NP_000304.2:n.*195C>A
NM_001314077.2:c.*195C>A	NP_001301006.1:n.*195C>A