Canonical Allele Identifier: CA9305128
Gene: IL12RB1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 328597
dbSNP Id: rs11575934

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18075808T>C , CM000681.2:g.18075808T>C GRCh38
NC_000019.9:g.18186618T>C , CM000681.1:g.18186618T>C GRCh37
NC_000019.8:g.18047618T>C NCBI36
NG_007366.2:g.28142A>G , LRG_72:g.28142A>G

Transcript Alleles

HGVS Amino-acid change
NM_001290023.1:c.641A>G VV NP_001276952.1:p.Gln214Arg
NM_001290024.1:c.761A>G VV NP_001276953.1:p.Gln254Arg
NM_005535.2:c.641A>G VV NP_005526.1:p.Gln214Arg
NM_153701.2:c.641A>G VV NP_714912.1:p.Gln214Arg
XM_006722741.2:c.761A>G XP_006722804.2:p.Gln254Arg
XM_011527966.1:c.773A>G XP_011526268.1:p.Gln258Arg
XM_011527967.1:c.761A>G XP_011526269.1:p.Gln254Arg
XM_011527968.1:c.773A>G XP_011526270.1:p.Gln258Arg
XM_011527969.1:c.761A>G XP_011526271.1:p.Gln254Arg
XM_011527970.1:c.773A>G XP_011526272.1:p.Gln258Arg
XM_011527971.1:c.773A>G XP_011526273.1:p.Gln258Arg
XM_011527972.1:c.773A>G XP_011526274.1:p.Gln258Arg
XM_011527973.1:c.653A>G XP_011526275.1:p.Gln218Arg
XM_011527974.1:c.641A>G XP_011526276.1:p.Gln214Arg
XM_011527975.1:c.761A>G XP_011526277.1:p.Gln254Arg
XM_011527976.1:c.773A>G XP_011526278.1:p.Gln258Arg
XM_011527977.1:c.761A>G XP_011526279.1:p.Gln254Arg
XM_006722741.3:c.761A>G XP_006722804.2:p.Gln254Arg
XM_011527966.2:c.773A>G XP_011526268.1:p.Gln258Arg
XM_011527967.2:c.761A>G XP_011526269.1:p.Gln254Arg
XM_011527968.3:c.773A>G XP_011526270.1:p.Gln258Arg
XM_011527969.2:c.761A>G XP_011526271.1:p.Gln254Arg
XM_011527970.2:c.773A>G XP_011526272.1:p.Gln258Arg
XM_011527971.3:c.773A>G XP_011526273.1:p.Gln258Arg
XM_011527972.3:c.773A>G XP_011526274.1:p.Gln258Arg
XM_011527973.2:c.653A>G XP_011526275.1:p.Gln218Arg
XM_011527974.2:c.641A>G XP_011526276.1:p.Gln214Arg
XM_011527975.2:c.761A>G XP_011526277.1:p.Gln254Arg
XM_011527976.2:c.773A>G XP_011526278.1:p.Gln258Arg
XM_011527977.2:c.761A>G XP_011526279.1:p.Gln254Arg
XM_017026762.1:c.38A>G XP_016882251.1:p.Gln13Arg
ENST00000322153.11:c.641A>G ENSP00000314425.5:p.Gln214Arg
ENST00000593993.6:c.641A>G ENSP00000472165.2:p.Gln214Arg
ENST00000600835.6:c.641A>G ENSP00000470788.1:p.Gln214Arg