Canonical Allele Identifier: CA10831910
Gene: TNFRSF1B HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.12208442G>A
GRCh37 chr1:g.12268499G>A
gnomAD v2:
1:12268499 G / A
gnomAD v3:
1:12208442 G / A
gnomAD v4:
chr1-12208442-G-A
Joint Max Group AF 0.24573763 (MID)
Genomes Max Group AF 0.20801771 (NFE)
Exomes Max Group AF 0.12695832 (NFE)
dbSNP:
1061631
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.12208442G>A , CM000663.2:g.12208442G>A GRCh38
NC_000001.10:g.12268499G>A , CM000663.1:g.12268499G>A GRCh37
NC_000001.9:g.12191086G>A NCBI36
NG_029791.1:g.46440G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000376259.7:c.*1422G>A MANE Select ENSP00000365435.3:n.*1422G>A
ENST00000376259.6:c.*1422G>A ENSP00000365435.3:n.*1422G>A
ENST00000492361.1:n.2797G>A
NM_001066.2:c.*1422G>A NP_001057.1:n.*1422G>A
XM_011542060.1:c.*1422G>A XP_011540362.1:n.*1422G>A
XM_011542061.1:c.*1422G>A XP_011540363.1:n.*1422G>A
XM_011542062.1:c.2856G>A XP_011540364.1:n.2856G>A
XM_011542063.1:c.*1422G>A XP_011540365.1:n.*1422G>A
XM_011542060.2:c.*1422G>A XP_011540362.1:n.*1422G>A
XM_011542063.2:c.*1422G>A XP_011540365.1:n.*1422G>A
XM_017002214.1:c.*1422G>A XP_016857703.1:n.*1422G>A
XM_017002215.1:c.*1422G>A XP_016857704.1:n.*1422G>A
NM_001066.3:c.*1422G>A MANE Select NP_001057.1:n.*1422G>A
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