Canonical Allele Identifier: CA9305140

Gene: IL12RB1

Linked Data

• ClinVar Variation Id: 788260
• ClinVar RCV Id: RCV000970665 ; RCV003960827
• dbSNP Id: rs139505765
• ExAC: 19:18186657 T / G
• gnomAD v2: 19-18186657-T-G
• gnomAD v3: 19-18075847-T-G
• gnomAD v4: 19-18075847-T-G
• MyVariant Identifiers: chr19:g.18186657T>G (hg19) ; chr19:g.18075847T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18075847T>G , CM000681.2:g.18075847T>G	GRCh38
NC_000019.9:g.18186657T>G , CM000681.1:g.18186657T>G	GRCh37
NC_000019.8:g.18047657T>G	NCBI36
NG_007366.2:g.28103A>C , LRG_72:g.28103A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593993.7:c.602A>C MANE Select	ENSP00000472165.2:p.Glu201Ala
ENST00000322153.11:c.602A>C	ENSP00000314425.5:p.Glu201Ala
ENST00000593993.6:c.602A>C	ENSP00000472165.2:p.Glu201Ala
ENST00000600835.6:c.602A>C	ENSP00000470788.1:p.Glu201Ala
NM_001290023.1:c.602A>C	NP_001276952.1:p.Glu201Ala
NM_001290024.1:c.722A>C	NP_001276953.1:p.Glu241Ala
NM_005535.2:c.602A>C	NP_005526.1:p.Glu201Ala
NM_153701.2:c.602A>C	NP_714912.1:p.Glu201Ala
XM_006722741.2:c.722A>C	XP_006722804.2:p.Glu241Ala
XM_011527966.1:c.734A>C	XP_011526268.1:p.Glu245Ala
XM_011527967.1:c.722A>C	XP_011526269.1:p.Glu241Ala
XM_011527968.1:c.734A>C	XP_011526270.1:p.Glu245Ala
XM_011527969.1:c.722A>C	XP_011526271.1:p.Glu241Ala
XM_011527970.1:c.734A>C	XP_011526272.1:p.Glu245Ala
XM_011527971.1:c.734A>C	XP_011526273.1:p.Glu245Ala
XM_011527972.1:c.734A>C	XP_011526274.1:p.Glu245Ala
XM_011527973.1:c.614A>C	XP_011526275.1:p.Glu205Ala
XM_011527974.1:c.602A>C	XP_011526276.1:p.Glu201Ala
XM_011527975.1:c.722A>C	XP_011526277.1:p.Glu241Ala
XM_011527976.1:c.734A>C	XP_011526278.1:p.Glu245Ala
XM_011527977.1:c.722A>C	XP_011526279.1:p.Glu241Ala
XM_006722741.3:c.722A>C	XP_006722804.2:p.Glu241Ala
XM_011527966.2:c.734A>C	XP_011526268.1:p.Glu245Ala
XM_011527967.2:c.722A>C	XP_011526269.1:p.Glu241Ala
XM_011527968.3:c.734A>C	XP_011526270.1:p.Glu245Ala
XM_011527969.2:c.722A>C	XP_011526271.1:p.Glu241Ala
XM_011527970.2:c.734A>C	XP_011526272.1:p.Glu245Ala
XM_011527971.3:c.734A>C	XP_011526273.1:p.Glu245Ala
XM_011527972.3:c.734A>C	XP_011526274.1:p.Glu245Ala
XM_011527973.2:c.614A>C	XP_011526275.1:p.Glu205Ala
XM_011527974.2:c.602A>C	XP_011526276.1:p.Glu201Ala
XM_011527975.2:c.722A>C	XP_011526277.1:p.Glu241Ala
XM_011527976.2:c.734A>C	XP_011526278.1:p.Glu245Ala
XM_011527977.2:c.722A>C	XP_011526279.1:p.Glu241Ala
XM_017026762.1:c.-2A>C	XP_016882251.1:n.-2A>C
NM_001290023.2:c.602A>C	NP_001276952.1:p.Glu201Ala
NM_005535.3:c.602A>C MANE Select	NP_005526.1:p.Glu201Ala
NM_153701.3:c.602A>C	NP_714912.1:p.Glu201Ala