Canonical Allele Identifier: CA78486652
Gene: PROS1 HGNC NCBI

Linked Data

dbSNP Id: rs1051687992
gnomAD v3: 3-93900626-T-G
gnomAD v4: 3-93900626-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93900626T>G , CM000665.2:g.93900626T>G GRCh38
NC_000003.11:g.93619470T>G , CM000665.1:g.93619470T>G GRCh37
NC_000003.10:g.95102160T>G NCBI36
NG_009813.1:g.78465A>C , LRG_572:g.78465A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000348974.5:c.727+178A>C ENSP00000330021.7:n.727+178A>C
ENST00000394236.9:c.727+178A>C MANE Select ENSP00000377783.3:n.727+178A>C
ENST00000407433.6:c.682+178A>C ENSP00000385794.2:n.682+178A>C
ENST00000647936.1:c.727+178A>C ENSP00000496822.1:n.727+178A>C
ENST00000648381.1:n.895+178A>C
ENST00000648853.1:c.685+178A>C ENSP00000497262.1:n.685+178A>C
ENST00000649103.1:c.826+178A>C ENSP00000497962.1:n.826+178A>C
ENST00000650591.1:c.823+178A>C ENSP00000497376.1:n.823+178A>C
ENST00000394236.7:c.727+178A>C ENSP00000377783.3:n.727+178A>C
ENST00000407433.5:c.334+178A>C ENSP00000385794.1:n.334+178A>C
NM_000313.3:c.727+178A>C , LRG_572t1:c.727+178A>C NP_000304.2:n.727+178A>C
NM_001314077.1:c.823+178A>C , LRG_572t2:c.823+178A>C NP_001301006.1:n.823+178A>C
NM_000313.4:c.727+178A>C MANE Select NP_000304.2:n.727+178A>C
NM_001314077.2:c.823+178A>C NP_001301006.1:n.823+178A>C