Canonical Allele Identifier: CA806390927
Gene: IL12B HGNC NCBI

Linked Data

dbSNP Id: rs181922994
gnomAD v3: 5-159321953-T-G
gnomAD v4: 5-159321953-T-G
MyVariant Identifiers: chr5:g.158748961T>G (hg19) chr5:g.159321953T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.159321953T>G , CM000667.2:g.159321953T>G GRCh38
NC_000005.9:g.158748961T>G , CM000667.1:g.158748961T>G GRCh37
NC_000005.8:g.158681539T>G NCBI36
NG_009618.1:g.13521A>C , LRG_71:g.13521A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000696750.1:c.-148-1433A>C ENSP00000512849.1:n.-148-1433A>C
ENST00000696751.1:c.364+1101A>C ENSP00000512850.1:n.364+1101A>C
ENST00000231228.3:c.482+441A>C MANE Select ENSP00000231228.2:n.482+441A>C
ENST00000231228.2:c.482+441A>C ENSP00000231228.2:n.482+441A>C
NM_002187.2:c.482+441A>C , LRG_71t1:c.482+441A>C NP_002178.2:n.482+441A>C
XR_001742945.1:n.147+1357T>G
NM_002187.3:c.482+441A>C MANE Select NP_002178.2:n.482+441A>C
Search 100 bp 5'
Search 100 bp 3'