Canonical Allele Identifier: CA564024502
Gene: IL12B HGNC NCBI

Linked Data

dbSNP Id: rs1398999972
gnomAD v2: 5-158749209-C-T
gnomAD v3: 5-159322201-C-T
gnomAD v4: 5-159322201-C-T
MyVariant Identifiers: chr5:g.158749209C>T (hg19) chr5:g.159322201C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.159322201C>T , CM000667.2:g.159322201C>T GRCh38
NC_000005.9:g.158749209C>T , CM000667.1:g.158749209C>T GRCh37
NC_000005.8:g.158681787C>T NCBI36
NG_009618.1:g.13273G>A , LRG_71:g.13273G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696750.1:c.-148-1681G>A ENSP00000512849.1:n.-148-1681G>A
ENST00000696751.1:c.364+853G>A ENSP00000512850.1:n.364+853G>A
ENST00000231228.3:c.482+193G>A MANE Select ENSP00000231228.2:n.482+193G>A
ENST00000231228.2:c.482+193G>A ENSP00000231228.2:n.482+193G>A
NM_002187.2:c.482+193G>A , LRG_71t1:c.482+193G>A NP_002178.2:n.482+193G>A
XR_001742945.1:n.147+1605C>T
NM_002187.3:c.482+193G>A MANE Select NP_002178.2:n.482+193G>A
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