Canonical Allele Identifier: CA1050935258
Gene: PROS1 HGNC NCBI

Linked Data

dbSNP Id: rs1279718010
gnomAD v3: 3-93873735-G-A
gnomAD v4: 3-93873735-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93873735G>A , CM000665.2:g.93873735G>A GRCh38
NC_000003.11:g.93592579G>A , CM000665.1:g.93592579G>A GRCh37
NC_000003.10:g.95075269G>A NCBI36
NG_009813.1:g.105356C>T , LRG_572:g.105356C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000348974.5:c.*2-322C>T ENSP00000330021.7:n.*2-322C>T
ENST00000394236.9:c.*510C>T MANE Select ENSP00000377783.3:n.*510C>T
ENST00000407433.6:c.*510C>T ENSP00000385794.2:n.*510C>T
ENST00000647936.1:c.*644C>T ENSP00000496822.1:n.*644C>T
ENST00000648381.1:n.2709C>T
ENST00000648853.1:c.*510C>T ENSP00000497262.1:n.*510C>T
ENST00000650591.1:c.*510C>T ENSP00000497376.1:n.*510C>T
ENST00000394236.7:c.*510C>T ENSP00000377783.3:n.*510C>T
ENST00000407433.5:c.*510C>T ENSP00000385794.1:n.*510C>T
NM_000313.3:c.*510C>T , LRG_572t1:c.*510C>T NP_000304.2:n.*510C>T
NM_001314077.1:c.*510C>T , LRG_572t2:c.*510C>T NP_001301006.1:n.*510C>T
NM_000313.4:c.*510C>T MANE Select NP_000304.2:n.*510C>T
NM_001314077.2:c.*510C>T NP_001301006.1:n.*510C>T