Canonical Allele Identifier: CA600830
Gene: TNFRSF1B HGNC NCBI

Linked Data

ClinVar Variation Id: 1048802
dbSNP Id: rs1061622
gnomAD v2: 1-12252955-T-G
gnomAD v3: 1-12192898-T-G
gnomAD v4: 1-12192898-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.12192898T>G , CM000663.2:g.12192898T>G GRCh38
NC_000001.10:g.12252955T>G , CM000663.1:g.12252955T>G GRCh37
NC_000001.9:g.12175542T>G NCBI36
NG_029791.1:g.30896T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000376259.7:c.587T>G MANE Select ENSP00000365435.3:p.Met196Arg
ENST00000376259.6:c.587T>G ENSP00000365435.3:p.Met196Arg
ENST00000489921.1:n.299T>G
ENST00000492361.1:n.576T>G
NM_001066.2:c.587T>G NP_001057.1:p.Met196Arg
XM_011542060.1:c.587T>G XP_011540362.1:p.Met196Arg
XM_011542061.1:c.587T>G XP_011540363.1:p.Met196Arg
XM_011542062.1:c.566T>G XP_011540364.1:p.Met189Arg
XM_011542063.1:c.587T>G XP_011540365.1:p.Met196Arg
XM_011542060.2:c.587T>G XP_011540362.1:p.Met196Arg
XM_011542063.2:c.587T>G XP_011540365.1:p.Met196Arg
XM_017002211.1:c.587T>G XP_016857700.1:p.Met196Arg
XM_017002214.1:c.2T>G XP_016857703.1:p.Met1Arg
XM_017002215.1:c.2T>G XP_016857704.1:p.Met1Arg
NM_001066.3:c.587T>G MANE Select NP_001057.1:p.Met196Arg