Canonical Allele Identifier: CA404781660

Gene: IL12RB1

Linked Data

• dbSNP Id: rs1459273559
• gnomAD v2: 19-18186636-A-G
• gnomAD v4: 19-18075826-A-G
• MyVariant Identifiers: chr19:g.18186636A>G (hg19) ; chr19:g.18075826A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18075826A>G , CM000681.2:g.18075826A>G	GRCh38
NC_000019.9:g.18186636A>G , CM000681.1:g.18186636A>G	GRCh37
NC_000019.8:g.18047636A>G	NCBI36
NG_007366.2:g.28124T>C , LRG_72:g.28124T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000593993.7:c.623T>C MANE Select	ENSP00000472165.2:p.Phe208Ser
ENST00000322153.11:c.623T>C	ENSP00000314425.5:p.Phe208Ser
ENST00000593993.6:c.623T>C	ENSP00000472165.2:p.Phe208Ser
ENST00000600835.6:c.623T>C	ENSP00000470788.1:p.Phe208Ser
NM_001290023.1:c.623T>C	NP_001276952.1:p.Phe208Ser
NM_001290024.1:c.743T>C	NP_001276953.1:p.Phe248Ser
NM_005535.2:c.623T>C	NP_005526.1:p.Phe208Ser
NM_153701.2:c.623T>C	NP_714912.1:p.Phe208Ser
XM_006722741.2:c.743T>C	XP_006722804.2:p.Phe248Ser
XM_011527966.1:c.755T>C	XP_011526268.1:p.Phe252Ser
XM_011527967.1:c.743T>C	XP_011526269.1:p.Phe248Ser
XM_011527968.1:c.755T>C	XP_011526270.1:p.Phe252Ser
XM_011527969.1:c.743T>C	XP_011526271.1:p.Phe248Ser
XM_011527970.1:c.755T>C	XP_011526272.1:p.Phe252Ser
XM_011527971.1:c.755T>C	XP_011526273.1:p.Phe252Ser
XM_011527972.1:c.755T>C	XP_011526274.1:p.Phe252Ser
XM_011527973.1:c.635T>C	XP_011526275.1:p.Phe212Ser
XM_011527974.1:c.623T>C	XP_011526276.1:p.Phe208Ser
XM_011527975.1:c.743T>C	XP_011526277.1:p.Phe248Ser
XM_011527976.1:c.755T>C	XP_011526278.1:p.Phe252Ser
XM_011527977.1:c.743T>C	XP_011526279.1:p.Phe248Ser
XM_006722741.3:c.743T>C	XP_006722804.2:p.Phe248Ser
XM_011527966.2:c.755T>C	XP_011526268.1:p.Phe252Ser
XM_011527967.2:c.743T>C	XP_011526269.1:p.Phe248Ser
XM_011527968.3:c.755T>C	XP_011526270.1:p.Phe252Ser
XM_011527969.2:c.743T>C	XP_011526271.1:p.Phe248Ser
XM_011527970.2:c.755T>C	XP_011526272.1:p.Phe252Ser
XM_011527971.3:c.755T>C	XP_011526273.1:p.Phe252Ser
XM_011527972.3:c.755T>C	XP_011526274.1:p.Phe252Ser
XM_011527973.2:c.635T>C	XP_011526275.1:p.Phe212Ser
XM_011527974.2:c.623T>C	XP_011526276.1:p.Phe208Ser
XM_011527975.2:c.743T>C	XP_011526277.1:p.Phe248Ser
XM_011527976.2:c.755T>C	XP_011526278.1:p.Phe252Ser
XM_011527977.2:c.743T>C	XP_011526279.1:p.Phe248Ser
XM_017026762.1:c.20T>C	XP_016882251.1:p.Phe7Ser
NM_001290023.2:c.623T>C	NP_001276952.1:p.Phe208Ser
NM_005535.3:c.623T>C MANE Select	NP_005526.1:p.Phe208Ser
NM_153701.3:c.623T>C	NP_714912.1:p.Phe208Ser