Canonical Allele Identifier: CA544756792
Gene: PROS1 HGNC NCBI

Linked Data

dbSNP Id: rs1445967721
gnomAD v2: 3-93598223-T-G
gnomAD v3: 3-93879379-T-G
gnomAD v4: 3-93879379-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93879379T>G , CM000665.2:g.93879379T>G GRCh38
NC_000003.11:g.93598223T>G , CM000665.1:g.93598223T>G GRCh37
NC_000003.10:g.95080913T>G NCBI36
NG_009813.1:g.99712A>C , LRG_572:g.99712A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000348974.5:c.1493-65A>C ENSP00000330021.7:n.1493-65A>C
ENST00000394236.9:c.1493-65A>C MANE Select ENSP00000377783.3:n.1493-65A>C
ENST00000407433.6:c.1448-65A>C ENSP00000385794.2:n.1448-65A>C
ENST00000647936.1:c.1493-65A>C ENSP00000496822.1:n.1493-65A>C
ENST00000648381.1:n.1661-65A>C
ENST00000648853.1:c.1451-65A>C ENSP00000497262.1:n.1451-65A>C
ENST00000649103.1:c.1592-65A>C ENSP00000497962.1:n.1592-65A>C
ENST00000649585.1:c.436-65A>C ENSP00000498163.1:n.436-65A>C
ENST00000650591.1:c.1589-65A>C ENSP00000497376.1:n.1589-65A>C
ENST00000394236.7:c.1493-65A>C ENSP00000377783.3:n.1493-65A>C
ENST00000407433.5:c.1100-65A>C ENSP00000385794.1:n.1100-65A>C
NM_000313.3:c.1493-65A>C , LRG_572t1:c.1493-65A>C NP_000304.2:n.1493-65A>C
NM_001314077.1:c.1589-65A>C , LRG_572t2:c.1589-65A>C NP_001301006.1:n.1589-65A>C
NM_000313.4:c.1493-65A>C MANE Select NP_000304.2:n.1493-65A>C
NM_001314077.2:c.1589-65A>C NP_001301006.1:n.1589-65A>C