Canonical Allele Identifier: CA998670380
Gene: TNFRSF1B HGNC NCBI

Linked Data

dbSNP Id: rs530235861
gnomAD v3: 1-12208372-C-G
gnomAD v4: 1-12208372-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.12208372C>G , CM000663.2:g.12208372C>G GRCh38
NC_000001.10:g.12268429C>G , CM000663.1:g.12268429C>G GRCh37
NC_000001.9:g.12191016C>G NCBI36
NG_029791.1:g.46370C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000376259.7:c.*1352C>G MANE Select ENSP00000365435.3:n.*1352C>G
ENST00000376259.6:c.*1352C>G ENSP00000365435.3:n.*1352C>G
ENST00000492361.1:n.2727C>G
NM_001066.2:c.*1352C>G NP_001057.1:n.*1352C>G
XM_011542060.1:c.*1352C>G XP_011540362.1:n.*1352C>G
XM_011542061.1:c.*1352C>G XP_011540363.1:n.*1352C>G
XM_011542062.1:c.2786C>G XP_011540364.1:n.2786C>G
XM_011542063.1:c.*1352C>G XP_011540365.1:n.*1352C>G
XM_011542060.2:c.*1352C>G XP_011540362.1:n.*1352C>G
XM_011542063.2:c.*1352C>G XP_011540365.1:n.*1352C>G
XM_017002214.1:c.*1352C>G XP_016857703.1:n.*1352C>G
XM_017002215.1:c.*1352C>G XP_016857704.1:n.*1352C>G
NM_001066.3:c.*1352C>G MANE Select NP_001057.1:n.*1352C>G