Canonical Allele Identifier: CA3538851
Gene: IL12B HGNC NCBI

Linked Data

ClinVar Variation Id: 656790
ClinVar RCV Id: RCV000813296
dbSNP Id: rs144694601
ExAC: 5:158750127 G / A
gnomAD v2: 5-158750127-G-A
gnomAD v3: 5-159323119-G-A
gnomAD v4: 5-159323119-G-A
MyVariant Identifiers: chr5:g.158750127G>A (hg19) chr5:g.159323119G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.159323119G>A , CM000667.2:g.159323119G>A GRCh38
NC_000005.9:g.158750127G>A , CM000667.1:g.158750127G>A GRCh37
NC_000005.8:g.158682705G>A NCBI36
NG_009618.1:g.12355C>T , LRG_71:g.12355C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696750.1:c.-148-2599C>T ENSP00000512849.1:n.-148-2599C>T
ENST00000696751.1:c.299C>T ENSP00000512850.1:p.Ser100Leu
ENST00000231228.3:c.299C>T MANE Select ENSP00000231228.2:p.Ser100Leu
ENST00000231228.2:c.299C>T ENSP00000231228.2:p.Ser100Leu
NM_002187.2:c.299C>T , LRG_71t1:c.299C>T NP_002178.2:p.Ser100Leu
XR_001742945.1:n.148-2415G>A
NM_002187.3:c.299C>T MANE Select NP_002178.2:p.Ser100Leu
Search 100 bp 5'
Search 100 bp 3'