Canonical Allele Identifier: CA912683285
Gene: PROS1 HGNC NCBI

Linked Data

dbSNP Id: rs1225469000
gnomAD v3: 3-93874059-A-G
gnomAD v4: 3-93874059-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93874059A>G , CM000665.2:g.93874059A>G GRCh38
NC_000003.11:g.93592903A>G , CM000665.1:g.93592903A>G GRCh37
NC_000003.10:g.95075593A>G NCBI36
NG_009813.1:g.105032T>C , LRG_572:g.105032T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000348974.5:c.*1+185T>C ENSP00000330021.7:n.*1+185T>C
ENST00000394236.9:c.*186T>C MANE Select ENSP00000377783.3:n.*186T>C
ENST00000407433.6:c.*186T>C ENSP00000385794.2:n.*186T>C
ENST00000647936.1:c.*320T>C ENSP00000496822.1:n.*320T>C
ENST00000648381.1:n.2385T>C
ENST00000648853.1:c.*186T>C ENSP00000497262.1:n.*186T>C
ENST00000650591.1:c.*186T>C ENSP00000497376.1:n.*186T>C
ENST00000394236.7:c.*186T>C ENSP00000377783.3:n.*186T>C
ENST00000407433.5:c.*186T>C ENSP00000385794.1:n.*186T>C
NM_000313.3:c.*186T>C , LRG_572t1:c.*186T>C NP_000304.2:n.*186T>C
NM_001314077.1:c.*186T>C , LRG_572t2:c.*186T>C NP_001301006.1:n.*186T>C
NM_000313.4:c.*186T>C MANE Select NP_000304.2:n.*186T>C
NM_001314077.2:c.*186T>C NP_001301006.1:n.*186T>C