Canonical Allele Identifier: CA3538854
Gene: IL12B HGNC NCBI

Linked Data

ClinVar Variation Id: 1446196
ClinVar RCV Id: RCV001958452
dbSNP Id: rs751689646
ExAC: 5:158750141 C / G
gnomAD v2: 5-158750141-C-G
gnomAD v3: 5-159323133-C-G
gnomAD v4: 5-159323133-C-G
MyVariant Identifiers: chr5:g.158750141C>G (hg19) chr5:g.159323133C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.159323133C>G , CM000667.2:g.159323133C>G GRCh38
NC_000005.9:g.158750141C>G , CM000667.1:g.158750141C>G GRCh37
NC_000005.8:g.158682719C>G NCBI36
NG_009618.1:g.12341G>C , LRG_71:g.12341G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696750.1:c.-148-2613G>C ENSP00000512849.1:n.-148-2613G>C
ENST00000696751.1:c.285G>C ENSP00000512850.1:p.Glu95Asp
ENST00000231228.3:c.285G>C MANE Select ENSP00000231228.2:p.Glu95Asp
ENST00000231228.2:c.285G>C ENSP00000231228.2:p.Glu95Asp
NM_002187.2:c.285G>C , LRG_71t1:c.285G>C NP_002178.2:p.Glu95Asp
XR_001742945.1:n.148-2401C>G
NM_002187.3:c.285G>C MANE Select NP_002178.2:p.Glu95Asp
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