Canonical Allele Identifier: CA404774714

Gene: IL12RB1

Linked Data

• gnomAD v4: 19-18059895-T-G
• MyVariant Identifiers: chr19:g.18170705T>G (hg19) ; chr19:g.18059895T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18059895T>G , CM000681.2:g.18059895T>G	GRCh38
NC_000019.9:g.18170705T>G , CM000681.1:g.18170705T>G	GRCh37
NC_000019.8:g.18031705T>G	NCBI36
NG_007366.2:g.44055A>C , LRG_72:g.44055A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593993.7:c.1982A>C MANE Select	ENSP00000472165.2:p.Lys661Thr
ENST00000593993.6:c.1982A>C	ENSP00000472165.2:p.Lys661Thr
ENST00000600835.6:c.1982A>C	ENSP00000470788.1:p.Lys661Thr
NM_001290023.1:c.1970+12A>C	NP_001276952.1:n.1970+12A>C
NM_001290024.1:c.2102A>C	NP_001276953.1:p.Lys701Thr
NM_005535.2:c.1982A>C	NP_005526.1:p.Lys661Thr
XM_006722741.2:c.2102A>C	XP_006722804.2:p.Lys701Thr
XM_011527966.1:c.2123+12A>C	XP_011526268.1:n.2123+12A>C
XM_011527967.1:c.2111+12A>C	XP_011526269.1:n.2111+12A>C
XM_011527968.1:c.2102+12A>C	XP_011526270.1:n.2102+12A>C
XM_011527969.1:c.2090+12A>C	XP_011526271.1:n.2090+12A>C
XM_011527970.1:c.2135A>C	XP_011526272.1:p.Lys712Thr
XM_011527971.1:c.2135A>C	XP_011526273.1:p.Lys712Thr
XM_011527972.1:c.2123+12A>C	XP_011526274.1:n.2123+12A>C
XM_011527973.1:c.2003+12A>C	XP_011526275.1:n.2003+12A>C
XM_011527974.1:c.1991+12A>C	XP_011526276.1:n.1991+12A>C
XM_011527975.1:c.2090+12A>C	XP_011526277.1:n.2090+12A>C
XM_006722741.3:c.2102A>C	XP_006722804.2:p.Lys701Thr
XM_011527966.2:c.2123+12A>C	XP_011526268.1:n.2123+12A>C
XM_011527967.2:c.2111+12A>C	XP_011526269.1:n.2111+12A>C
XM_011527968.3:c.2102+12A>C	XP_011526270.1:n.2102+12A>C
XM_011527969.2:c.2090+12A>C	XP_011526271.1:n.2090+12A>C
XM_011527970.2:c.2135A>C	XP_011526272.1:p.Lys712Thr
XM_011527971.3:c.2135A>C	XP_011526273.1:p.Lys712Thr
XM_011527972.3:c.2123+12A>C	XP_011526274.1:n.2123+12A>C
XM_011527973.2:c.2003+12A>C	XP_011526275.1:n.2003+12A>C
XM_011527974.2:c.1991+12A>C	XP_011526276.1:n.1991+12A>C
XM_011527975.2:c.2090+12A>C	XP_011526277.1:n.2090+12A>C
XM_017026762.1:c.1388+12A>C	XP_016882251.1:n.1388+12A>C
NM_001290023.2:c.1970+12A>C	NP_001276952.1:n.1970+12A>C
NM_005535.3:c.1982A>C MANE Select	NP_005526.1:p.Lys661Thr