Canonical Allele Identifier: CA447681150
Gene: IL12B HGNC NCBI

Linked Data

ClinVar Variation Id: 1099558
ClinVar RCV Id: RCV001421874
dbSNP Id: rs2113029996
MyVariant Identifiers: chr5:g.158750117C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.159323109C>G , CM000667.2:g.159323109C>G GRCh38
NC_000005.9:g.158750117C>G , CM000667.1:g.158750117C>G GRCh37
NC_000005.8:g.158682695C>G NCBI36
NG_009618.1:g.12365G>C , LRG_71:g.12365G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000696750.1:c.-148-2589G>C ENSP00000512849.1:n.-148-2589G>C
ENST00000696751.1:c.309G>C ENSP00000512850.1:p.Leu103=
ENST00000231228.3:c.309G>C MANE Select ENSP00000231228.2:p.Leu103=
ENST00000231228.2:c.309G>C ENSP00000231228.2:p.Leu103=
NM_002187.2:c.309G>C , LRG_71t1:c.309G>C NP_002178.2:p.Leu103=
XR_001742945.1:n.148-2425C>G
NM_002187.3:c.309G>C MANE Select NP_002178.2:p.Leu103=