Canonical Allele Identifier: CA3538773
Gene: IL12B HGNC NCBI

Linked Data

ClinVar Variation Id: 474972
ClinVar RCV Id: RCV000555413
dbSNP Id: rs565345523
ExAC: 5:158747505 G / A
gnomAD v2: 5-158747505-G-A
gnomAD v3: 5-159320497-G-A
gnomAD v4: 5-159320497-G-A
MyVariant Identifiers: chr5:g.158747505G>A (hg19) chr5:g.159320497G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.159320497G>A , CM000667.2:g.159320497G>A GRCh38
NC_000005.9:g.158747505G>A , CM000667.1:g.158747505G>A GRCh37
NC_000005.8:g.158680083G>A NCBI36
NG_009618.1:g.14977C>T , LRG_71:g.14977C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000696750.1:c.-125C>T ENSP00000512849.1:n.-125C>T
ENST00000696751.1:c.*1C>T ENSP00000512850.1:n.*1C>T
ENST00000231228.3:c.506C>T MANE Select ENSP00000231228.2:p.Thr169Met
ENST00000231228.2:c.506C>T ENSP00000231228.2:p.Thr169Met
NM_002187.2:c.506C>T , LRG_71t1:c.506C>T NP_002178.2:p.Thr169Met
XR_001742945.1:n.48G>A
NM_002187.3:c.506C>T MANE Select NP_002178.2:p.Thr169Met
Search 100 bp 5'
Search 100 bp 3'