Canonical Allele Identifier: CA3538843
Gene: IL12B HGNC NCBI

Linked Data

dbSNP Id: rs748791854
ExAC: 5:158750071 C / A
gnomAD v2: 5-158750071-C-A
gnomAD v4: 5-159323063-C-A
MyVariant Identifiers: chr5:g.158750071C>A (hg19) chr5:g.159323063C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.159323063C>A , CM000667.2:g.159323063C>A GRCh38
NC_000005.9:g.158750071C>A , CM000667.1:g.158750071C>A GRCh37
NC_000005.8:g.158682649C>A NCBI36
NG_009618.1:g.12411G>T , LRG_71:g.12411G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000696750.1:c.-148-2543G>T ENSP00000512849.1:n.-148-2543G>T
ENST00000696751.1:c.355G>T ENSP00000512850.1:p.Asp119Tyr
ENST00000231228.3:c.355G>T MANE Select ENSP00000231228.2:p.Asp119Tyr
ENST00000231228.2:c.355G>T ENSP00000231228.2:p.Asp119Tyr
NM_002187.2:c.355G>T , LRG_71t1:c.355G>T NP_002178.2:p.Asp119Tyr
XR_001742945.1:n.147+2467C>A
NM_002187.3:c.355G>T MANE Select NP_002178.2:p.Asp119Tyr
Search 100 bp 5'
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