Canonical Allele Identifier: CA3538779
Gene: IL12B HGNC NCBI

Linked Data

ClinVar Variation Id: 352576
ClinVar RCV Id: RCV000540689
dbSNP Id: rs3213099
ExAC: 5:158747536 C / G
gnomAD v2: 5-158747536-C-G
gnomAD v3: 5-159320528-C-G
gnomAD v4: 5-159320528-C-G
MyVariant Identifiers: chr5:g.158747536C>G (hg19) chr5:g.159320528C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.159320528C>G , CM000667.2:g.159320528C>G GRCh38
NC_000005.9:g.158747536C>G , CM000667.1:g.158747536C>G GRCh37
NC_000005.8:g.158680114C>G NCBI36
NG_009618.1:g.14946G>C , LRG_71:g.14946G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696750.1:c.-148-8G>C ENSP00000512849.1:n.-148-8G>C
ENST00000696751.1:c.365-8G>C ENSP00000512850.1:n.365-8G>C
ENST00000231228.3:c.483-8G>C MANE Select ENSP00000231228.2:n.483-8G>C
ENST00000231228.2:c.483-8G>C ENSP00000231228.2:n.483-8G>C
NM_002187.2:c.483-8G>C , LRG_71t1:c.483-8G>C NP_002178.2:n.483-8G>C
XR_001742945.1:n.79C>G
NM_002187.3:c.483-8G>C MANE Select NP_002178.2:n.483-8G>C
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