Canonical Allele Identifier: CA434463989
Gene: PROS1 HGNC NCBI

Linked Data

dbSNP Id: rs1708203249
MyVariant Identifiers: chr3:g.93596012A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.93877168A>G , CM000665.2:g.93877168A>G GRCh38
NC_000003.11:g.93596012A>G , CM000665.1:g.93596012A>G GRCh37
NC_000003.10:g.95078702A>G NCBI36
NG_009813.1:g.101923T>C , LRG_572:g.101923T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000348974.5:c.1668T>C ENSP00000330021.7:p.Asn556=
ENST00000394236.9:c.1668T>C MANE Select ENSP00000377783.3:p.Asn556=
ENST00000407433.6:c.1623T>C ENSP00000385794.2:p.Asn541=
ENST00000647936.1:c.1644+1995T>C ENSP00000496822.1:n.1644+1995T>C
ENST00000648381.1:n.1836T>C
ENST00000648853.1:c.1626T>C ENSP00000497262.1:p.Asn542=
ENST00000649103.1:c.1767T>C ENSP00000497962.1:n.1767T>C
ENST00000649585.1:c.611T>C ENSP00000498163.1:n.611T>C
ENST00000650591.1:c.1764T>C ENSP00000497376.1:p.Asn588=
ENST00000394236.7:c.1668T>C ENSP00000377783.3:p.Asn556=
ENST00000407433.5:c.1275T>C ENSP00000385794.1:p.Asn425=
NM_000313.3:c.1668T>C , LRG_572t1:c.1668T>C NP_000304.2:p.Asn556=
NM_001314077.1:c.1764T>C , LRG_572t2:c.1764T>C NP_001301006.1:p.Asn588=
NM_000313.4:c.1668T>C MANE Select NP_000304.2:p.Asn556=
NM_001314077.2:c.1764T>C NP_001301006.1:p.Asn588=