Canonical Allele Identifier: CA912683332
Gene: PROS1 HGNC NCBI

Linked Data

dbSNP Id: rs1178835033
gnomAD v3: 3-93874121-A-T
gnomAD v4: 3-93874121-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93874121A>T , CM000665.2:g.93874121A>T GRCh38
NC_000003.11:g.93592965A>T , CM000665.1:g.93592965A>T GRCh37
NC_000003.10:g.95075655A>T NCBI36
NG_009813.1:g.104970T>A , LRG_572:g.104970T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000348974.5:c.*1+123T>A ENSP00000330021.7:n.*1+123T>A
ENST00000394236.9:c.*124T>A MANE Select ENSP00000377783.3:n.*124T>A
ENST00000407433.6:c.*124T>A ENSP00000385794.2:n.*124T>A
ENST00000647936.1:c.*258T>A ENSP00000496822.1:n.*258T>A
ENST00000648381.1:n.2323T>A
ENST00000648853.1:c.*124T>A ENSP00000497262.1:n.*124T>A
ENST00000650591.1:c.*124T>A ENSP00000497376.1:n.*124T>A
ENST00000394236.7:c.*124T>A ENSP00000377783.3:n.*124T>A
ENST00000407433.5:c.*124T>A ENSP00000385794.1:n.*124T>A
NM_000313.3:c.*124T>A , LRG_572t1:c.*124T>A NP_000304.2:n.*124T>A
NM_001314077.1:c.*124T>A , LRG_572t2:c.*124T>A NP_001301006.1:n.*124T>A
NM_000313.4:c.*124T>A MANE Select NP_000304.2:n.*124T>A
NM_001314077.2:c.*124T>A NP_001301006.1:n.*124T>A