Canonical Allele Identifier: CA353670852

Gene: PROS1

Linked Data

• gnomAD v4: 3-93876984-A-G
• MyVariant Identifiers: chr3:g.93595828A>G (hg19) ; chr3:g.93876984A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93876984A>G , CM000665.2:g.93876984A>G	GRCh38
NC_000003.11:g.93595828A>G , CM000665.1:g.93595828A>G	GRCh37
NC_000003.10:g.95078518A>G	NCBI36
NG_009813.1:g.102107T>C , LRG_572:g.102107T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.1852T>C	ENSP00000330021.7:p.Tyr618His
ENST00000394236.9:c.1852T>C MANE Select	ENSP00000377783.3:p.Tyr618His
ENST00000407433.6:c.1807T>C	ENSP00000385794.2:p.Tyr603His
ENST00000647936.1:c.1644+2179T>C	ENSP00000496822.1:n.1644+2179T>C
ENST00000648381.1:n.2020T>C
ENST00000648853.1:c.1810T>C	ENSP00000497262.1:p.Tyr604His
ENST00000650591.1:c.1948T>C	ENSP00000497376.1:p.Tyr650His
ENST00000394236.7:c.1852T>C	ENSP00000377783.3:p.Tyr618His
ENST00000407433.5:c.1459T>C	ENSP00000385794.1:p.Tyr487His
NM_000313.3:c.1852T>C , LRG_572t1:c.1852T>C	NP_000304.2:p.Tyr618His
NM_001314077.1:c.1948T>C , LRG_572t2:c.1948T>C	NP_001301006.1:p.Tyr650His
NM_000313.4:c.1852T>C MANE Select	NP_000304.2:p.Tyr618His
NM_001314077.2:c.1948T>C	NP_001301006.1:p.Tyr650His