Canonical Allele Identifier: CA2503198
Gene: PROS1 HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93884827C>T , CM000665.2:g.93884827C>T GRCh38
NC_000003.11:g.93603671C>T , CM000665.1:g.93603671C>T GRCh37
NC_000003.10:g.95086361C>T NCBI36
NG_009813.1:g.94264G>A , LRG_572:g.94264G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000348974.5:c.1393G>A ENSP00000330021.7:p.Glu465Lys
ENST00000394236.9:c.1393G>A MANE Select ENSP00000377783.3:p.Glu465Lys
ENST00000407433.6:c.1348G>A ENSP00000385794.2:p.Glu450Lys
ENST00000647936.1:c.1393G>A ENSP00000496822.1:p.Glu465Lys
ENST00000648381.1:n.1561G>A
ENST00000648853.1:c.1351G>A ENSP00000497262.1:p.Glu451Lys
ENST00000649103.1:c.1492G>A ENSP00000497962.1:n.1492G>A
ENST00000649585.1:c.148G>A ENSP00000498163.1:p.Glu50Lys
ENST00000650591.1:c.1489G>A ENSP00000497376.1:p.Glu497Lys
ENST00000394236.7:c.1393G>A ENSP00000377783.3:p.Glu465Lys
ENST00000407433.5:c.1000G>A ENSP00000385794.1:p.Glu334Lys
NM_000313.3:c.1393G>A , LRG_572t1:c.1393G>A NP_000304.2:p.Glu465Lys
NM_001314077.1:c.1489G>A , LRG_572t2:c.1489G>A NP_001301006.1:p.Glu497Lys
NM_000313.4:c.1393G>A MANE Select NP_000304.2:p.Glu465Lys
NM_001314077.2:c.1489G>A NP_001301006.1:p.Glu497Lys