Canonical Allele Identifier: CA353669445

Gene: PROS1

Linked Data

• gnomAD v4: 3-93874274-A-G
• MyVariant Identifiers: chr3:g.93593118A>G (hg19) ; chr3:g.93874274A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93874274A>G , CM000665.2:g.93874274A>G	GRCh38
NC_000003.11:g.93593118A>G , CM000665.1:g.93593118A>G	GRCh37
NC_000003.10:g.95075808A>G	NCBI36
NG_009813.1:g.104817T>C , LRG_572:g.104817T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348974.5:c.2002T>C	ENSP00000330021.7:p.Ser668Pro
ENST00000394236.9:c.2002T>C MANE Select	ENSP00000377783.3:p.Ser668Pro
ENST00000407433.6:c.1957T>C	ENSP00000385794.2:p.Ser653Pro
ENST00000647936.1:c.*105T>C	ENSP00000496822.1:n.*105T>C
ENST00000648381.1:n.2170T>C
ENST00000648853.1:c.1960T>C	ENSP00000497262.1:p.Ser654Pro
ENST00000650591.1:c.2098T>C	ENSP00000497376.1:p.Ser700Pro
ENST00000394236.7:c.2002T>C	ENSP00000377783.3:p.Ser668Pro
ENST00000407433.5:c.1609T>C	ENSP00000385794.1:p.Ser537Pro
NM_000313.3:c.2002T>C , LRG_572t1:c.2002T>C	NP_000304.2:p.Ser668Pro
NM_001314077.1:c.2098T>C , LRG_572t2:c.2098T>C	NP_001301006.1:p.Ser700Pro
NM_000313.4:c.2002T>C MANE Select	NP_000304.2:p.Ser668Pro
NM_001314077.2:c.2098T>C	NP_001301006.1:p.Ser700Pro