Canonical Allele Identifier: CA10621150
Gene: IL12B HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.159315942T>G
GRCh37 chr5:g.158742950T>G
gnomAD v2:
5:158742950 T / G
gnomAD v3:
5:159315942 T / G
gnomAD v4:
chr5-159315942-T-G
Joint Max Group AF 0.44409578 (EAS)
Genomes Max Group AF 0.44917021 (EAS)
Exomes Max Group AF 0.17921097 (EAS)
ClinVar RCV:
RCV000307367
ClinVar Variation:
352569
dbSNP:
3212227
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.159315942T>G , CM000667.2:g.159315942T>G GRCh38
NC_000005.9:g.158742950T>G , CM000667.1:g.158742950T>G GRCh37
NC_000005.8:g.158675528T>G NCBI36
NG_009618.1:g.19532A>C , LRG_71:g.19532A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696750.1:c.*159A>C ENSP00000512849.1:n.*159A>C
ENST00000696751.1:c.*641A>C ENSP00000512850.1:n.*641A>C
ENST00000231228.3:c.*159A>C MANE Select ENSP00000231228.2:n.*159A>C
ENST00000231228.2:c.*159A>C ENSP00000231228.2:n.*159A>C
NM_002187.2:c.*159A>C , LRG_71t1:c.*159A>C NP_002178.2:n.*159A>C
NM_002187.3:c.*159A>C MANE Select NP_002178.2:n.*159A>C
Search 100 bp 5'
Search 100 bp 3'