Canonical Allele Identifier: CA3538756
Gene: IL12B HGNC NCBI

Linked Data

ClinVar Variation Id: 1419326
ClinVar RCV Id: RCV001940632
dbSNP Id: rs760025343
ExAC: 5:158747389 T / C
gnomAD v2: 5-158747389-T-C
gnomAD v3: 5-159320381-T-C
gnomAD v4: 5-159320381-T-C
MyVariant Identifiers: chr5:g.158747389T>C (hg19) chr5:g.159320381T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.159320381T>C , CM000667.2:g.159320381T>C GRCh38
NC_000005.9:g.158747389T>C , CM000667.1:g.158747389T>C GRCh37
NC_000005.8:g.158679967T>C NCBI36
NG_009618.1:g.15093A>G , LRG_71:g.15093A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696750.1:c.-9A>G ENSP00000512849.1:n.-9A>G
ENST00000696751.1:c.*117A>G ENSP00000512850.1:n.*117A>G
ENST00000231228.3:c.622A>G MANE Select ENSP00000231228.2:p.Ile208Val
ENST00000231228.2:c.622A>G ENSP00000231228.2:p.Ile208Val
NM_002187.2:c.622A>G , LRG_71t1:c.622A>G NP_002178.2:p.Ile208Val
NM_002187.3:c.622A>G MANE Select NP_002178.2:p.Ile208Val
Search 100 bp 5'
Search 100 bp 3'