Canonical Allele Identifier: CA9304941

Gene: IL12RB1

Linked Data

• ClinVar Variation Id: 474975
• ClinVar RCV Id: RCV000544599 ; RCV001535524 ; RCV003962594
• dbSNP Id: rs140254802
• ExAC: 19:18180373 G / A
• gnomAD v2: 19-18180373-G-A
• gnomAD v3: 19-18069563-G-A
• gnomAD v4: 19-18069563-G-A
• MyVariant Identifiers: chr19:g.18180373G>A (hg19) ; chr19:g.18069563G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18069563G>A , CM000681.2:g.18069563G>A	GRCh38
NC_000019.9:g.18180373G>A , CM000681.1:g.18180373G>A	GRCh37
NC_000019.8:g.18041373G>A	NCBI36
NG_007366.2:g.34387C>T , LRG_72:g.34387C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593993.7:c.1172C>T MANE Select	ENSP00000472165.2:p.Pro391Leu
ENST00000593993.6:c.1172C>T	ENSP00000472165.2:p.Pro391Leu
ENST00000600835.6:c.1172C>T	ENSP00000470788.1:p.Pro391Leu
NM_001290023.1:c.1172C>T	NP_001276952.1:p.Pro391Leu
NM_001290024.1:c.1292C>T	NP_001276953.1:p.Pro431Leu
NM_005535.2:c.1172C>T	NP_005526.1:p.Pro391Leu
XM_006722741.2:c.1292C>T	XP_006722804.2:p.Pro431Leu
XM_011527966.1:c.1325C>T	XP_011526268.1:p.Pro442Leu
XM_011527967.1:c.1313C>T	XP_011526269.1:p.Pro438Leu
XM_011527968.1:c.1304C>T	XP_011526270.1:p.Pro435Leu
XM_011527969.1:c.1292C>T	XP_011526271.1:p.Pro431Leu
XM_011527970.1:c.1325C>T	XP_011526272.1:p.Pro442Leu
XM_011527971.1:c.1325C>T	XP_011526273.1:p.Pro442Leu
XM_011527972.1:c.1325C>T	XP_011526274.1:p.Pro442Leu
XM_011527973.1:c.1205C>T	XP_011526275.1:p.Pro402Leu
XM_011527974.1:c.1193C>T	XP_011526276.1:p.Pro398Leu
XM_011527975.1:c.1292C>T	XP_011526277.1:p.Pro431Leu
XM_011527976.1:c.1325C>T	XP_011526278.1:p.Pro442Leu
XM_006722741.3:c.1292C>T	XP_006722804.2:p.Pro431Leu
XM_011527966.2:c.1325C>T	XP_011526268.1:p.Pro442Leu
XM_011527967.2:c.1313C>T	XP_011526269.1:p.Pro438Leu
XM_011527968.3:c.1304C>T	XP_011526270.1:p.Pro435Leu
XM_011527969.2:c.1292C>T	XP_011526271.1:p.Pro431Leu
XM_011527970.2:c.1325C>T	XP_011526272.1:p.Pro442Leu
XM_011527971.3:c.1325C>T	XP_011526273.1:p.Pro442Leu
XM_011527972.3:c.1325C>T	XP_011526274.1:p.Pro442Leu
XM_011527973.2:c.1205C>T	XP_011526275.1:p.Pro402Leu
XM_011527974.2:c.1193C>T	XP_011526276.1:p.Pro398Leu
XM_011527975.2:c.1292C>T	XP_011526277.1:p.Pro431Leu
XM_011527976.2:c.1325C>T	XP_011526278.1:p.Pro442Leu
XM_017026762.1:c.590C>T	XP_016882251.1:p.Pro197Leu
NM_001290023.2:c.1172C>T	NP_001276952.1:p.Pro391Leu
NM_005535.3:c.1172C>T MANE Select	NP_005526.1:p.Pro391Leu