Canonical Allele Identifier: CA78519979

Gene: PROS1

Linked Data

• dbSNP Id: rs562230741
• gnomAD v2: 3-93592585-G-A
• gnomAD v3: 3-93873741-G-A
• gnomAD v4: 3-93873741-G-A
• MyVariant Identifiers: chr3:g.93592585G>A (hg19) ; chr3:g.93873741G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93873741G>A , CM000665.2:g.93873741G>A	GRCh38
NC_000003.11:g.93592585G>A , CM000665.1:g.93592585G>A	GRCh37
NC_000003.10:g.95075275G>A	NCBI36
NG_009813.1:g.105350C>T , LRG_572:g.105350C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.*2-328C>T	ENSP00000330021.7:n.*2-328C>T
ENST00000394236.9:c.*504C>T MANE Select	ENSP00000377783.3:n.*504C>T
ENST00000407433.6:c.*504C>T	ENSP00000385794.2:n.*504C>T
ENST00000647936.1:c.*638C>T	ENSP00000496822.1:n.*638C>T
ENST00000648381.1:n.2703C>T
ENST00000648853.1:c.*504C>T	ENSP00000497262.1:n.*504C>T
ENST00000650591.1:c.*504C>T	ENSP00000497376.1:n.*504C>T
ENST00000394236.7:c.*504C>T	ENSP00000377783.3:n.*504C>T
ENST00000407433.5:c.*504C>T	ENSP00000385794.1:n.*504C>T
NM_000313.3:c.*504C>T , LRG_572t1:c.*504C>T	NP_000304.2:n.*504C>T
NM_001314077.1:c.*504C>T , LRG_572t2:c.*504C>T	NP_001301006.1:n.*504C>T
NM_000313.4:c.*504C>T MANE Select	NP_000304.2:n.*504C>T
NM_001314077.2:c.*504C>T	NP_001301006.1:n.*504C>T