Canonical Allele Identifier: CA1050950600
Gene: PROS1 HGNC NCBI

Linked Data

dbSNP Id: rs1708534296
gnomAD v3: 3-93898376-A-G
gnomAD v4: 3-93898376-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93898376A>G , CM000665.2:g.93898376A>G GRCh38
NC_000003.11:g.93617220A>G , CM000665.1:g.93617220A>G GRCh37
NC_000003.10:g.95099910A>G NCBI36
NG_009813.1:g.80715T>C , LRG_572:g.80715T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000348974.5:c.849+72T>C ENSP00000330021.7:n.849+72T>C
ENST00000394236.9:c.849+72T>C MANE Select ENSP00000377783.3:n.849+72T>C
ENST00000407433.6:c.804+72T>C ENSP00000385794.2:n.804+72T>C
ENST00000647936.1:c.849+72T>C ENSP00000496822.1:n.849+72T>C
ENST00000648381.1:n.1017+72T>C
ENST00000648853.1:c.807+72T>C ENSP00000497262.1:n.807+72T>C
ENST00000649103.1:c.948+72T>C ENSP00000497962.1:n.948+72T>C
ENST00000650591.1:c.945+72T>C ENSP00000497376.1:n.945+72T>C
ENST00000394236.7:c.849+72T>C ENSP00000377783.3:n.849+72T>C
ENST00000407433.5:c.456+72T>C ENSP00000385794.1:n.456+72T>C
NM_000313.3:c.849+72T>C , LRG_572t1:c.849+72T>C NP_000304.2:n.849+72T>C
NM_001314077.1:c.945+72T>C , LRG_572t2:c.945+72T>C NP_001301006.1:n.945+72T>C
NM_000313.4:c.849+72T>C MANE Select NP_000304.2:n.849+72T>C
NM_001314077.2:c.945+72T>C NP_001301006.1:n.945+72T>C