Canonical Allele Identifier: CA353672615
Gene: PROS1 HGNC NCBI

Linked Data

dbSNP Id: rs1395378093
gnomAD v3: 3-93896628-G-T
gnomAD v4: 3-93896628-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93896628G>T , CM000665.2:g.93896628G>T GRCh38
NC_000003.11:g.93615472G>T , CM000665.1:g.93615472G>T GRCh37
NC_000003.10:g.95098162G>T NCBI36
NG_009813.1:g.82463C>A , LRG_572:g.82463C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000348974.5:c.913C>A ENSP00000330021.7:p.Gln305Lys
ENST00000394236.9:c.913C>A MANE Select ENSP00000377783.3:p.Gln305Lys
ENST00000407433.6:c.868C>A ENSP00000385794.2:p.Gln290Lys
ENST00000647936.1:c.913C>A ENSP00000496822.1:p.Gln305Lys
ENST00000648381.1:n.1081C>A
ENST00000648853.1:c.871C>A ENSP00000497262.1:p.Gln291Lys
ENST00000649103.1:c.1012C>A ENSP00000497962.1:n.1012C>A
ENST00000650591.1:c.1009C>A ENSP00000497376.1:p.Gln337Lys
ENST00000394236.7:c.913C>A ENSP00000377783.3:p.Gln305Lys
ENST00000407433.5:c.520C>A ENSP00000385794.1:p.Gln174Lys
NM_000313.3:c.913C>A , LRG_572t1:c.913C>A NP_000304.2:p.Gln305Lys
NM_001314077.1:c.1009C>A , LRG_572t2:c.1009C>A NP_001301006.1:p.Gln337Lys
NM_000313.4:c.913C>A MANE Select NP_000304.2:p.Gln305Lys
NM_001314077.2:c.1009C>A NP_001301006.1:p.Gln337Lys