Canonical Allele Identifier: CA544750417
Gene: PROS1 HGNC NCBI

Linked Data

dbSNP Id: rs1190742282
gnomAD v2: 3-93615635-G-A
gnomAD v3: 3-93896791-G-A
gnomAD v4: 3-93896791-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93896791G>A , CM000665.2:g.93896791G>A GRCh38
NC_000003.11:g.93615635G>A , CM000665.1:g.93615635G>A GRCh37
NC_000003.10:g.95098325G>A NCBI36
NG_009813.1:g.82300C>T , LRG_572:g.82300C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000348974.5:c.850-100C>T ENSP00000330021.7:n.850-100C>T
ENST00000394236.9:c.850-100C>T MANE Select ENSP00000377783.3:n.850-100C>T
ENST00000407433.6:c.805-100C>T ENSP00000385794.2:n.805-100C>T
ENST00000647936.1:c.850-100C>T ENSP00000496822.1:n.850-100C>T
ENST00000648381.1:n.1018-100C>T
ENST00000648853.1:c.808-100C>T ENSP00000497262.1:n.808-100C>T
ENST00000649103.1:c.949-100C>T ENSP00000497962.1:n.949-100C>T
ENST00000650591.1:c.946-100C>T ENSP00000497376.1:n.946-100C>T
ENST00000394236.7:c.850-100C>T ENSP00000377783.3:n.850-100C>T
ENST00000407433.5:c.457-100C>T ENSP00000385794.1:n.457-100C>T
NM_000313.3:c.850-100C>T , LRG_572t1:c.850-100C>T NP_000304.2:n.850-100C>T
NM_001314077.1:c.946-100C>T , LRG_572t2:c.946-100C>T NP_001301006.1:n.946-100C>T
NM_000313.4:c.850-100C>T MANE Select NP_000304.2:n.850-100C>T
NM_001314077.2:c.946-100C>T NP_001301006.1:n.946-100C>T