Canonical Allele Identifier: CA10623998
Gene: IL12B HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.159315006G>T
GRCh37 chr5:g.158742014G>T
gnomAD v2:
5:158742014 G / T
gnomAD v3:
5:159315006 G / T
gnomAD v4:
chr5-159315006-G-T
Joint Max Group AF 0.97280791 (EAS)
Genomes Max Group AF 0.97570872 (EAS)
Exomes Max Group AF 0.71393044 (EAS)
ClinVar RCV:
RCV000267660
ClinVar Variation:
352554
dbSNP:
1368439
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.159315006G>T , CM000667.2:g.159315006G>T GRCh38
NC_000005.9:g.158742014G>T , CM000667.1:g.158742014G>T GRCh37
NC_000005.8:g.158674592G>T NCBI36
NG_009618.1:g.20468C>A , LRG_71:g.20468C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696750.1:c.*1095C>A ENSP00000512849.1:n.*1095C>A
ENST00000696751.1:c.*1577C>A ENSP00000512850.1:n.*1577C>A
ENST00000231228.3:c.*1095C>A MANE Select ENSP00000231228.2:n.*1095C>A
ENST00000231228.2:c.*1095C>A ENSP00000231228.2:n.*1095C>A
NM_002187.2:c.*1095C>A , LRG_71t1:c.*1095C>A NP_002178.2:n.*1095C>A
XR_941138.1:n.364-212G>T
XR_941138.2:n.431-212G>T
NM_002187.3:c.*1095C>A MANE Select NP_002178.2:n.*1095C>A
Search 100 bp 5'
Search 100 bp 3'