Canonical Allele Identifier: CA362033010
Gene: IL12B HGNC NCBI

Linked Data

ClinVar Variation Id: 645911
ClinVar RCV Id: RCV000800087
dbSNP Id: rs1584753640
gnomAD v4: 5-159320503-C-T
MyVariant Identifiers: chr5:g.158747511C>T (hg19) chr5:g.159320503C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.159320503C>T , CM000667.2:g.159320503C>T GRCh38
NC_000005.9:g.158747511C>T , CM000667.1:g.158747511C>T GRCh37
NC_000005.8:g.158680089C>T NCBI36
NG_009618.1:g.14971G>A , LRG_71:g.14971G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696750.1:c.-131G>A ENSP00000512849.1:n.-131G>A
ENST00000696751.1:c.382G>A ENSP00000512850.1:p.Gly128Arg
ENST00000231228.3:c.500G>A MANE Select ENSP00000231228.2:p.Gly167Glu
ENST00000231228.2:c.500G>A ENSP00000231228.2:p.Gly167Glu
NM_002187.2:c.500G>A , LRG_71t1:c.500G>A NP_002178.2:p.Gly167Glu
XR_001742945.1:n.54C>T
NM_002187.3:c.500G>A MANE Select NP_002178.2:p.Gly167Glu
Search 100 bp 5'
Search 100 bp 3'