Canonical Allele Identifier: CA3538879
Gene: IL12B HGNC NCBI

Linked Data

ClinVar Variation Id: 2162141
ClinVar RCV Id: RCV003070091
dbSNP Id: rs779340279

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.159323303G>C , CM000667.2:g.159323303G>C GRCh38
NC_000005.9:g.158750311G>C , CM000667.1:g.158750311G>C GRCh37
NC_000005.8:g.158682889G>C NCBI36
NG_009618.1:g.12171C>G , LRG_71:g.12171C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696750.1:c.-148-2783C>G ENSP00000512849.1:n.-148-2783C>G
ENST00000696751.1:c.115C>G ENSP00000512850.1:p.Pro39Ala
ENST00000231228.3:c.115C>G MANE Select ENSP00000231228.2:p.Pro39Ala
ENST00000231228.2:c.115C>G ENSP00000231228.2:p.Pro39Ala
NM_002187.2:c.115C>G , LRG_71t1:c.115C>G NP_002178.2:p.Pro39Ala
XR_001742945.1:n.148-2231G>C
NM_002187.3:c.115C>G MANE Select NP_002178.2:p.Pro39Ala