Canonical Allele Identifier: CA544755970

Gene: PROS1

Linked Data

• dbSNP Id: rs1218450153
• gnomAD v2: 3-93592614-T-C
• gnomAD v3: 3-93873770-T-C
• gnomAD v4: 3-93873770-T-C
• MyVariant Identifiers: chr3:g.93592614T>C (hg19) ; chr3:g.93873770T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93873770T>C , CM000665.2:g.93873770T>C	GRCh38
NC_000003.11:g.93592614T>C , CM000665.1:g.93592614T>C	GRCh37
NC_000003.10:g.95075304T>C	NCBI36
NG_009813.1:g.105321A>G , LRG_572:g.105321A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.*2-357A>G	ENSP00000330021.7:n.*2-357A>G
ENST00000394236.9:c.*475A>G MANE Select	ENSP00000377783.3:n.*475A>G
ENST00000407433.6:c.*475A>G	ENSP00000385794.2:n.*475A>G
ENST00000647936.1:c.*609A>G	ENSP00000496822.1:n.*609A>G
ENST00000648381.1:n.2674A>G
ENST00000648853.1:c.*475A>G	ENSP00000497262.1:n.*475A>G
ENST00000650591.1:c.*475A>G	ENSP00000497376.1:n.*475A>G
ENST00000394236.7:c.*475A>G	ENSP00000377783.3:n.*475A>G
ENST00000407433.5:c.*475A>G	ENSP00000385794.1:n.*475A>G
NM_000313.3:c.*475A>G , LRG_572t1:c.*475A>G	NP_000304.2:n.*475A>G
NM_001314077.1:c.*475A>G , LRG_572t2:c.*475A>G	NP_001301006.1:n.*475A>G
NM_000313.4:c.*475A>G MANE Select	NP_000304.2:n.*475A>G
NM_001314077.2:c.*475A>G	NP_001301006.1:n.*475A>G