Canonical Allele Identifier: CA338454898
Gene: TNFRSF1B HGNC NCBI

Linked Data

dbSNP Id: rs1197909380
gnomAD v2: 1-12252920-C-G
gnomAD v4: 1-12192863-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.12192863C>G , CM000663.2:g.12192863C>G GRCh38
NC_000001.10:g.12252920C>G , CM000663.1:g.12252920C>G GRCh37
NC_000001.9:g.12175507C>G NCBI36
NG_029791.1:g.30861C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000376259.7:c.552C>G MANE Select ENSP00000365435.3:p.Ile184Met
ENST00000376259.6:c.552C>G ENSP00000365435.3:p.Ile184Met
ENST00000489921.1:n.264C>G
ENST00000492361.1:n.541C>G
NM_001066.2:c.552C>G NP_001057.1:p.Ile184Met
XM_011542060.1:c.552C>G XP_011540362.1:p.Ile184Met
XM_011542061.1:c.552C>G XP_011540363.1:p.Ile184Met
XM_011542062.1:c.531C>G XP_011540364.1:p.Ile177Met
XM_011542063.1:c.552C>G XP_011540365.1:p.Ile184Met
XM_011542060.2:c.552C>G XP_011540362.1:p.Ile184Met
XM_011542063.2:c.552C>G XP_011540365.1:p.Ile184Met
XM_017002211.1:c.552C>G XP_016857700.1:p.Ile184Met
XM_017002214.1:c.-34C>G XP_016857703.1:n.-34C>G
XM_017002215.1:c.-34C>G XP_016857704.1:n.-34C>G
NM_001066.3:c.552C>G MANE Select NP_001057.1:p.Ile184Met