Canonical Allele Identifier: CA353673065

Gene: PROS1

Linked Data

• gnomAD v4: 3-93900804-C-G
• MyVariant Identifiers: chr3:g.93619648C>G (hg19) ; chr3:g.93900804C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93900804C>G , CM000665.2:g.93900804C>G	GRCh38
NC_000003.11:g.93619648C>G , CM000665.1:g.93619648C>G	GRCh37
NC_000003.10:g.95102338C>G	NCBI36
NG_009813.1:g.78287G>C , LRG_572:g.78287G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.727G>C	ENSP00000330021.7:p.Asp243His
ENST00000394236.9:c.727G>C MANE Select	ENSP00000377783.3:p.Asp243His
ENST00000407433.6:c.682G>C	ENSP00000385794.2:p.Asp228His
ENST00000647936.1:c.727G>C	ENSP00000496822.1:p.Asp243His
ENST00000648381.1:n.895G>C
ENST00000648853.1:c.685G>C	ENSP00000497262.1:p.Asp229His
ENST00000649103.1:c.826G>C	ENSP00000497962.1:n.826G>C
ENST00000650591.1:c.823G>C	ENSP00000497376.1:p.Asp275His
ENST00000394236.7:c.727G>C	ENSP00000377783.3:p.Asp243His
ENST00000407433.5:c.334G>C	ENSP00000385794.1:p.Asp112His
NM_000313.3:c.727G>C , LRG_572t1:c.727G>C	NP_000304.2:p.Asp243His
NM_001314077.1:c.823G>C , LRG_572t2:c.823G>C	NP_001301006.1:p.Asp275His
NM_000313.4:c.727G>C MANE Select	NP_000304.2:p.Asp243His
NM_001314077.2:c.823G>C	NP_001301006.1:p.Asp275His