Canonical Allele Identifier: CA3538856
Gene: IL12B HGNC NCBI

Linked Data

ClinVar Variation Id: 1471505
ClinVar RCV Id: RCV001966811
dbSNP Id: rs142017503
ExAC: 5:158750144 G / A
gnomAD v2: 5-158750144-G-A
gnomAD v3: 5-159323136-G-A
gnomAD v4: 5-159323136-G-A
MyVariant Identifiers: chr5:g.158750144G>A (hg19) chr5:g.159323136G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.159323136G>A , CM000667.2:g.159323136G>A GRCh38
NC_000005.9:g.158750144G>A , CM000667.1:g.158750144G>A GRCh37
NC_000005.8:g.158682722G>A NCBI36
NG_009618.1:g.12338C>T , LRG_71:g.12338C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696750.1:c.-148-2616C>T ENSP00000512849.1:n.-148-2616C>T
ENST00000696751.1:c.282C>T ENSP00000512850.1:p.Gly94=
ENST00000231228.3:c.282C>T MANE Select ENSP00000231228.2:p.Gly94=
ENST00000231228.2:c.282C>T ENSP00000231228.2:p.Gly94=
NM_002187.2:c.282C>T , LRG_71t1:c.282C>T NP_002178.2:p.Gly94=
XR_001742945.1:n.148-2398G>A
NM_002187.3:c.282C>T MANE Select NP_002178.2:p.Gly94=
Search 100 bp 5'
Search 100 bp 3'