Canonical Allele Identifier: CA119239
Gene: IL12RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 8032
dbSNP Id: rs121434492

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18083462G>A , CM000681.2:g.18083462G>A GRCh38
NC_000019.9:g.18194272G>A , CM000681.1:g.18194272G>A GRCh37
NC_000019.8:g.18055272G>A NCBI36
NG_007366.2:g.20488C>T , LRG_72:g.20488C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000593993.7:c.94C>T MANE Select ENSP00000472165.2:p.Gln32Ter
ENST00000322153.11:c.94C>T ENSP00000314425.5:p.Gln32Ter
ENST00000430026.7:c.94C>T ENSP00000403103.3:p.Gln32Ter
ENST00000593993.6:c.94C>T ENSP00000472165.2:p.Gln32Ter
ENST00000594176.1:c.94C>T ENSP00000473051.1:p.Gln32Ter
ENST00000597416.1:n.201C>T
ENST00000598019.6:c.94C>T ENSP00000468831.2:p.Gln32Ter
ENST00000600835.6:c.94C>T ENSP00000470788.1:p.Gln32Ter
NM_001290023.1:c.94C>T NP_001276952.1:p.Gln32Ter
NM_001290024.1:c.214C>T NP_001276953.1:p.Gln72Ter
NM_005535.2:c.94C>T NP_005526.1:p.Gln32Ter
NM_153701.2:c.94C>T NP_714912.1:p.Gln32Ter
XM_006722741.2:c.214C>T XP_006722804.2:p.Gln72Ter
XM_011527966.1:c.214C>T XP_011526268.1:p.Gln72Ter
XM_011527967.1:c.214C>T XP_011526269.1:p.Gln72Ter
XM_011527968.1:c.214C>T XP_011526270.1:p.Gln72Ter
XM_011527969.1:c.214C>T XP_011526271.1:p.Gln72Ter
XM_011527970.1:c.214C>T XP_011526272.1:p.Gln72Ter
XM_011527971.1:c.214C>T XP_011526273.1:p.Gln72Ter
XM_011527972.1:c.214C>T XP_011526274.1:p.Gln72Ter
XM_011527973.1:c.94C>T XP_011526275.1:p.Gln32Ter
XM_011527974.1:c.94C>T XP_011526276.1:p.Gln32Ter
XM_011527975.1:c.214C>T XP_011526277.1:p.Gln72Ter
XM_011527976.1:c.214C>T XP_011526278.1:p.Gln72Ter
XM_011527977.1:c.214C>T XP_011526279.1:p.Gln72Ter
XM_006722741.3:c.214C>T XP_006722804.2:p.Gln72Ter
XM_011527966.2:c.214C>T XP_011526268.1:p.Gln72Ter
XM_011527967.2:c.214C>T XP_011526269.1:p.Gln72Ter
XM_011527968.3:c.214C>T XP_011526270.1:p.Gln72Ter
XM_011527969.2:c.214C>T XP_011526271.1:p.Gln72Ter
XM_011527970.2:c.214C>T XP_011526272.1:p.Gln72Ter
XM_011527971.3:c.214C>T XP_011526273.1:p.Gln72Ter
XM_011527972.3:c.214C>T XP_011526274.1:p.Gln72Ter
XM_011527973.2:c.94C>T XP_011526275.1:p.Gln32Ter
XM_011527974.2:c.94C>T XP_011526276.1:p.Gln32Ter
XM_011527975.2:c.214C>T XP_011526277.1:p.Gln72Ter
XM_011527976.2:c.214C>T XP_011526278.1:p.Gln72Ter
XM_011527977.2:c.214C>T XP_011526279.1:p.Gln72Ter
NM_001290023.2:c.94C>T NP_001276952.1:p.Gln32Ter
NM_005535.3:c.94C>T MANE Select NP_005526.1:p.Gln32Ter
NM_153701.3:c.94C>T NP_714912.1:p.Gln32Ter