Canonical Allele Identifier: CA912650367
Gene: PROS1 HGNC NCBI

Linked Data

dbSNP Id: rs1197494512
gnomAD v3: 3-93900395-A-C
gnomAD v4: 3-93900395-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93900395A>C , CM000665.2:g.93900395A>C GRCh38
NC_000003.11:g.93619239A>C , CM000665.1:g.93619239A>C GRCh37
NC_000003.10:g.95101929A>C NCBI36
NG_009813.1:g.78696T>G , LRG_572:g.78696T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000348974.5:c.727+409T>G ENSP00000330021.7:n.727+409T>G
ENST00000394236.9:c.727+409T>G MANE Select ENSP00000377783.3:n.727+409T>G
ENST00000407433.6:c.682+409T>G ENSP00000385794.2:n.682+409T>G
ENST00000647936.1:c.727+409T>G ENSP00000496822.1:n.727+409T>G
ENST00000648381.1:n.895+409T>G
ENST00000648853.1:c.685+409T>G ENSP00000497262.1:n.685+409T>G
ENST00000649103.1:c.826+409T>G ENSP00000497962.1:n.826+409T>G
ENST00000650591.1:c.823+409T>G ENSP00000497376.1:n.823+409T>G
ENST00000394236.7:c.727+409T>G ENSP00000377783.3:n.727+409T>G
ENST00000407433.5:c.334+409T>G ENSP00000385794.1:n.334+409T>G
NM_000313.3:c.727+409T>G , LRG_572t1:c.727+409T>G NP_000304.2:n.727+409T>G
NM_001314077.1:c.823+409T>G , LRG_572t2:c.823+409T>G NP_001301006.1:n.823+409T>G
NM_000313.4:c.727+409T>G MANE Select NP_000304.2:n.727+409T>G
NM_001314077.2:c.823+409T>G NP_001301006.1:n.823+409T>G