Canonical Allele Identifier: CA1050950604
Gene: PROS1 HGNC NCBI

Linked Data

dbSNP Id: rs1708534703
gnomAD v3: 3-93898398-T-C
gnomAD v4: 3-93898398-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93898398T>C , CM000665.2:g.93898398T>C GRCh38
NC_000003.11:g.93617242T>C , CM000665.1:g.93617242T>C GRCh37
NC_000003.10:g.95099932T>C NCBI36
NG_009813.1:g.80693A>G , LRG_572:g.80693A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000348974.5:c.849+50A>G ENSP00000330021.7:n.849+50A>G
ENST00000394236.9:c.849+50A>G MANE Select ENSP00000377783.3:n.849+50A>G
ENST00000407433.6:c.804+50A>G ENSP00000385794.2:n.804+50A>G
ENST00000647936.1:c.849+50A>G ENSP00000496822.1:n.849+50A>G
ENST00000648381.1:n.1017+50A>G
ENST00000648853.1:c.807+50A>G ENSP00000497262.1:n.807+50A>G
ENST00000649103.1:c.948+50A>G ENSP00000497962.1:n.948+50A>G
ENST00000650591.1:c.945+50A>G ENSP00000497376.1:n.945+50A>G
ENST00000394236.7:c.849+50A>G ENSP00000377783.3:n.849+50A>G
ENST00000407433.5:c.456+50A>G ENSP00000385794.1:n.456+50A>G
NM_000313.3:c.849+50A>G , LRG_572t1:c.849+50A>G NP_000304.2:n.849+50A>G
NM_001314077.1:c.945+50A>G , LRG_572t2:c.945+50A>G NP_001301006.1:n.945+50A>G
NM_000313.4:c.849+50A>G MANE Select NP_000304.2:n.849+50A>G
NM_001314077.2:c.945+50A>G NP_001301006.1:n.945+50A>G