Canonical Allele Identifier: CA544751148
Gene: PROS1 HGNC NCBI

Linked Data

dbSNP Id: rs779732213
gnomAD v2: 3-93619603-C-T
gnomAD v4: 3-93900759-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93900759C>T , CM000665.2:g.93900759C>T GRCh38
NC_000003.11:g.93619603C>T , CM000665.1:g.93619603C>T GRCh37
NC_000003.10:g.95102293C>T NCBI36
NG_009813.1:g.78332G>A , LRG_572:g.78332G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000348974.5:c.727+45G>A ENSP00000330021.7:n.727+45G>A
ENST00000394236.9:c.727+45G>A MANE Select ENSP00000377783.3:n.727+45G>A
ENST00000407433.6:c.682+45G>A ENSP00000385794.2:n.682+45G>A
ENST00000647936.1:c.727+45G>A ENSP00000496822.1:n.727+45G>A
ENST00000648381.1:n.895+45G>A
ENST00000648853.1:c.685+45G>A ENSP00000497262.1:n.685+45G>A
ENST00000649103.1:c.826+45G>A ENSP00000497962.1:n.826+45G>A
ENST00000650591.1:c.823+45G>A ENSP00000497376.1:n.823+45G>A
ENST00000394236.7:c.727+45G>A ENSP00000377783.3:n.727+45G>A
ENST00000407433.5:c.334+45G>A ENSP00000385794.1:n.334+45G>A
NM_000313.3:c.727+45G>A , LRG_572t1:c.727+45G>A NP_000304.2:n.727+45G>A
NM_001314077.1:c.823+45G>A , LRG_572t2:c.823+45G>A NP_001301006.1:n.823+45G>A
NM_000313.4:c.727+45G>A MANE Select NP_000304.2:n.727+45G>A
NM_001314077.2:c.823+45G>A NP_001301006.1:n.823+45G>A