Canonical Allele Identifier: CA447681326
Gene: IL12B HGNC NCBI

Linked Data

ClinVar Variation Id: 1130886
ClinVar RCV Id: RCV001464588
dbSNP Id: rs2113030463
MyVariant Identifiers: chr5:g.158750282G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.159323274G>A , CM000667.2:g.159323274G>A GRCh38
NC_000005.9:g.158750282G>A , CM000667.1:g.158750282G>A GRCh37
NC_000005.8:g.158682860G>A NCBI36
NG_009618.1:g.12200C>T , LRG_71:g.12200C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696750.1:c.-148-2754C>T ENSP00000512849.1:n.-148-2754C>T
ENST00000696751.1:c.144C>T ENSP00000512850.1:p.Leu48=
ENST00000231228.3:c.144C>T MANE Select ENSP00000231228.2:p.Leu48=
ENST00000231228.2:c.144C>T ENSP00000231228.2:p.Leu48=
NM_002187.2:c.144C>T , LRG_71t1:c.144C>T NP_002178.2:p.Leu48=
XR_001742945.1:n.148-2260G>A
NM_002187.3:c.144C>T MANE Select NP_002178.2:p.Leu48=