Canonical Allele Identifier: CA362033023
Gene: IL12B HGNC NCBI

Linked Data

ClinVar Variation Id: 1513218
ClinVar RCV Id: RCV002045857
dbSNP Id: rs867995975
gnomAD v2: 5-158747517-G-C
gnomAD v4: 5-159320509-G-C
MyVariant Identifiers: chr5:g.158747517G>C (hg19) chr5:g.159320509G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.159320509G>C , CM000667.2:g.159320509G>C GRCh38
NC_000005.9:g.158747517G>C , CM000667.1:g.158747517G>C GRCh37
NC_000005.8:g.158680095G>C NCBI36
NG_009618.1:g.14965C>G , LRG_71:g.14965C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696750.1:c.-137C>G ENSP00000512849.1:n.-137C>G
ENST00000696751.1:c.376C>G ENSP00000512850.1:p.Pro126Ala
ENST00000231228.3:c.494C>G MANE Select ENSP00000231228.2:p.Pro165Arg
ENST00000231228.2:c.494C>G ENSP00000231228.2:p.Pro165Arg
NM_002187.2:c.494C>G , LRG_71t1:c.494C>G NP_002178.2:p.Pro165Arg
XR_001742945.1:n.60G>C
NM_002187.3:c.494C>G MANE Select NP_002178.2:p.Pro165Arg
Search 100 bp 5'
Search 100 bp 3'