Canonical Allele Identifier: CA1050949712
Gene: PROS1 HGNC NCBI

Linked Data

dbSNP Id: rs1708502231
gnomAD v3: 3-93896451-T-C
gnomAD v4: 3-93896451-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93896451T>C , CM000665.2:g.93896451T>C GRCh38
NC_000003.11:g.93615295T>C , CM000665.1:g.93615295T>C GRCh37
NC_000003.10:g.95097985T>C NCBI36
NG_009813.1:g.82640A>G , LRG_572:g.82640A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000348974.5:c.965+125A>G ENSP00000330021.7:n.965+125A>G
ENST00000394236.9:c.965+125A>G MANE Select ENSP00000377783.3:n.965+125A>G
ENST00000407433.6:c.920+125A>G ENSP00000385794.2:n.920+125A>G
ENST00000647936.1:c.965+125A>G ENSP00000496822.1:n.965+125A>G
ENST00000648381.1:n.1133+125A>G
ENST00000648853.1:c.923+125A>G ENSP00000497262.1:n.923+125A>G
ENST00000649103.1:c.1064+125A>G ENSP00000497962.1:n.1064+125A>G
ENST00000650591.1:c.1061+125A>G ENSP00000497376.1:n.1061+125A>G
ENST00000394236.7:c.965+125A>G ENSP00000377783.3:n.965+125A>G
ENST00000407433.5:c.572+125A>G ENSP00000385794.1:n.572+125A>G
NM_000313.3:c.965+125A>G , LRG_572t1:c.965+125A>G NP_000304.2:n.965+125A>G
NM_001314077.1:c.1061+125A>G , LRG_572t2:c.1061+125A>G NP_001301006.1:n.1061+125A>G
NM_000313.4:c.965+125A>G MANE Select NP_000304.2:n.965+125A>G
NM_001314077.2:c.1061+125A>G NP_001301006.1:n.1061+125A>G