Canonical Allele Identifier: CA447681346
Gene: IL12B HGNC NCBI

Linked Data

ClinVar Variation Id: 1037703
ClinVar RCV Id: RCV001340896
dbSNP Id: rs1754132833
MyVariant Identifiers: chr5:g.158750309C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.159323301C>T , CM000667.2:g.159323301C>T GRCh38
NC_000005.9:g.158750309C>T , CM000667.1:g.158750309C>T GRCh37
NC_000005.8:g.158682887C>T NCBI36
NG_009618.1:g.12173G>A , LRG_71:g.12173G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696750.1:c.-148-2781G>A ENSP00000512849.1:n.-148-2781G>A
ENST00000696751.1:c.117G>A ENSP00000512850.1:p.Pro39=
ENST00000231228.3:c.117G>A MANE Select ENSP00000231228.2:p.Pro39=
ENST00000231228.2:c.117G>A ENSP00000231228.2:p.Pro39=
NM_002187.2:c.117G>A , LRG_71t1:c.117G>A NP_002178.2:p.Pro39=
XR_001742945.1:n.148-2233C>T
NM_002187.3:c.117G>A MANE Select NP_002178.2:p.Pro39=