Canonical Allele Identifier: CA362032532
Gene: IL12B HGNC NCBI

Linked Data

ClinVar Variation Id: 1018823
ClinVar RCV Id: RCV001318179
dbSNP Id: rs1354465878
gnomAD v3: 5-159320369-C-G
gnomAD v4: 5-159320369-C-G
MyVariant Identifiers: chr5:g.158747377C>G (hg19) chr5:g.159320369C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.159320369C>G , CM000667.2:g.159320369C>G GRCh38
NC_000005.9:g.158747377C>G , CM000667.1:g.158747377C>G GRCh37
NC_000005.8:g.158679955C>G NCBI36
NG_009618.1:g.15105G>C , LRG_71:g.15105G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696750.1:c.4G>C ENSP00000512849.1:p.Val2Leu
ENST00000696751.1:c.*129G>C ENSP00000512850.1:n.*129G>C
ENST00000231228.3:c.634G>C MANE Select ENSP00000231228.2:p.Val212Leu
ENST00000231228.2:c.634G>C ENSP00000231228.2:p.Val212Leu
NM_002187.2:c.634G>C , LRG_71t1:c.634G>C NP_002178.2:p.Val212Leu
NM_002187.3:c.634G>C MANE Select NP_002178.2:p.Val212Leu
Search 100 bp 5'
Search 100 bp 3'