Canonical Allele Identifier: CA9304963

Gene: IL12RB1

Linked Data

• dbSNP Id: rs768373452
• ExAC: 19:18180452 T / C
• gnomAD v2: 19-18180452-T-C
• gnomAD v4: 19-18069642-T-C
• MyVariant Identifiers: chr19:g.18180452T>C (hg19) ; chr19:g.18069642T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18069642T>C , CM000681.2:g.18069642T>C	GRCh38
NC_000019.9:g.18180452T>C , CM000681.1:g.18180452T>C	GRCh37
NC_000019.8:g.18041452T>C	NCBI36
NG_007366.2:g.34308A>G , LRG_72:g.34308A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593993.7:c.1093A>G MANE Select	ENSP00000472165.2:p.Met365Val
ENST00000593993.6:c.1093A>G	ENSP00000472165.2:p.Met365Val
ENST00000600835.6:c.1093A>G	ENSP00000470788.1:p.Met365Val
NM_001290023.1:c.1093A>G	NP_001276952.1:p.Met365Val
NM_001290024.1:c.1213A>G	NP_001276953.1:p.Met405Val
NM_005535.2:c.1093A>G	NP_005526.1:p.Met365Val
XM_006722741.2:c.1213A>G	XP_006722804.2:p.Met405Val
XM_011527966.1:c.1246A>G	XP_011526268.1:p.Met416Val
XM_011527967.1:c.1234A>G	XP_011526269.1:p.Met412Val
XM_011527968.1:c.1225A>G	XP_011526270.1:p.Met409Val
XM_011527969.1:c.1213A>G	XP_011526271.1:p.Met405Val
XM_011527970.1:c.1246A>G	XP_011526272.1:p.Met416Val
XM_011527971.1:c.1246A>G	XP_011526273.1:p.Met416Val
XM_011527972.1:c.1246A>G	XP_011526274.1:p.Met416Val
XM_011527973.1:c.1126A>G	XP_011526275.1:p.Met376Val
XM_011527974.1:c.1114A>G	XP_011526276.1:p.Met372Val
XM_011527975.1:c.1213A>G	XP_011526277.1:p.Met405Val
XM_011527976.1:c.1246A>G	XP_011526278.1:p.Met416Val
XM_006722741.3:c.1213A>G	XP_006722804.2:p.Met405Val
XM_011527966.2:c.1246A>G	XP_011526268.1:p.Met416Val
XM_011527967.2:c.1234A>G	XP_011526269.1:p.Met412Val
XM_011527968.3:c.1225A>G	XP_011526270.1:p.Met409Val
XM_011527969.2:c.1213A>G	XP_011526271.1:p.Met405Val
XM_011527970.2:c.1246A>G	XP_011526272.1:p.Met416Val
XM_011527971.3:c.1246A>G	XP_011526273.1:p.Met416Val
XM_011527972.3:c.1246A>G	XP_011526274.1:p.Met416Val
XM_011527973.2:c.1126A>G	XP_011526275.1:p.Met376Val
XM_011527974.2:c.1114A>G	XP_011526276.1:p.Met372Val
XM_011527975.2:c.1213A>G	XP_011526277.1:p.Met405Val
XM_011527976.2:c.1246A>G	XP_011526278.1:p.Met416Val
XM_017026762.1:c.511A>G	XP_016882251.1:p.Met171Val
NM_001290023.2:c.1093A>G	NP_001276952.1:p.Met365Val
NM_005535.3:c.1093A>G MANE Select	NP_005526.1:p.Met365Val