Canonical Allele Identifier: CA2503148

Gene: PROS1

Linked Data

• dbSNP Id: rs532641819
• ExAC: 3:93598007 C / A
• gnomAD v2: 3-93598007-C-A
• gnomAD v3: 3-93879163-C-A
• gnomAD v4: 3-93879163-C-A
• MyVariant Identifiers: chr3:g.93598007C>A (hg19) ; chr3:g.93879163C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.93879163C>A , CM000665.2:g.93879163C>A	GRCh38
NC_000003.11:g.93598007C>A , CM000665.1:g.93598007C>A	GRCh37
NC_000003.10:g.95080697C>A	NCBI36
NG_009813.1:g.99928G>T , LRG_572:g.99928G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000348974.5:c.1644G>T	ENSP00000330021.7:p.Gln548His
ENST00000394236.9:c.1644G>T MANE Select	ENSP00000377783.3:p.Gln548His
ENST00000407433.6:c.1599G>T	ENSP00000385794.2:p.Gln533His
ENST00000647936.1:c.1644G>T	ENSP00000496822.1:p.Gln548His
ENST00000648381.1:n.1812G>T
ENST00000648853.1:c.1602G>T	ENSP00000497262.1:p.Gln534His
ENST00000649103.1:c.1743G>T	ENSP00000497962.1:n.1743G>T
ENST00000649585.1:c.587G>T	ENSP00000498163.1:n.587G>T
ENST00000650591.1:c.1740G>T	ENSP00000497376.1:p.Gln580His
ENST00000394236.7:c.1644G>T	ENSP00000377783.3:p.Gln548His
ENST00000407433.5:c.1251G>T	ENSP00000385794.1:p.Gln417His
NM_000313.3:c.1644G>T , LRG_572t1:c.1644G>T	NP_000304.2:p.Gln548His
NM_001314077.1:c.1740G>T , LRG_572t2:c.1740G>T	NP_001301006.1:p.Gln580His
NM_000313.4:c.1644G>T MANE Select	NP_000304.2:p.Gln548His
NM_001314077.2:c.1740G>T	NP_001301006.1:p.Gln580His