Canonical Allele Identifier: CA362037097
Gene: IL12B HGNC NCBI

Linked Data

ClinVar Variation Id: 2240583
ClinVar RCV Id: RCV002766988
dbSNP Id: rs1754133509

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.159323329A>G , CM000667.2:g.159323329A>G GRCh38
NC_000005.9:g.158750337A>G , CM000667.1:g.158750337A>G GRCh37
NC_000005.8:g.158682915A>G NCBI36
NG_009618.1:g.12145T>C , LRG_71:g.12145T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696750.1:c.-148-2809T>C ENSP00000512849.1:n.-148-2809T>C
ENST00000696751.1:c.89T>C ENSP00000512850.1:p.Val30Ala
ENST00000231228.3:c.89T>C MANE Select ENSP00000231228.2:p.Val30Ala
ENST00000231228.2:c.89T>C ENSP00000231228.2:p.Val30Ala
NM_002187.2:c.89T>C , LRG_71t1:c.89T>C NP_002178.2:p.Val30Ala
XR_001742945.1:n.148-2205A>G
NM_002187.3:c.89T>C MANE Select NP_002178.2:p.Val30Ala