Canonical Allele Identifier: CA1083507456
Gene: IL12B HGNC NCBI

Linked Data

dbSNP Id: rs1754058975
gnomAD v3: 5-159320006-A-G
gnomAD v4: 5-159320006-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.159320006A>G , CM000667.2:g.159320006A>G GRCh38
NC_000005.9:g.158747014A>G , CM000667.1:g.158747014A>G GRCh37
NC_000005.8:g.158679592A>G NCBI36
NG_009618.1:g.15468T>C , LRG_71:g.15468T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696750.1:c.67+300T>C ENSP00000512849.1:n.67+300T>C
ENST00000696751.1:c.*192+300T>C ENSP00000512850.1:n.*192+300T>C
ENST00000231228.3:c.697+300T>C MANE Select ENSP00000231228.2:n.697+300T>C
ENST00000231228.2:c.697+300T>C ENSP00000231228.2:n.697+300T>C
NM_002187.2:c.697+300T>C , LRG_71t1:c.697+300T>C NP_002178.2:n.697+300T>C
NM_002187.3:c.697+300T>C MANE Select NP_002178.2:n.697+300T>C
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