Canonical Allele Identifier: CA18022060
Gene: TNFRSF1B HGNC NCBI

Linked Data

dbSNP Id: rs981800406
gnomAD v2: 1-12252961-C-T
gnomAD v4: 1-12192904-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.12192904C>T , CM000663.2:g.12192904C>T GRCh38
NC_000001.10:g.12252961C>T , CM000663.1:g.12252961C>T GRCh37
NC_000001.9:g.12175548C>T NCBI36
NG_029791.1:g.30902C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000376259.7:c.593C>T MANE Select ENSP00000365435.3:p.Ala198Val
ENST00000376259.6:c.593C>T ENSP00000365435.3:p.Ala198Val
ENST00000489921.1:n.305C>T
ENST00000492361.1:n.582C>T
NM_001066.2:c.593C>T NP_001057.1:p.Ala198Val
XM_011542060.1:c.593C>T XP_011540362.1:p.Ala198Val
XM_011542061.1:c.593C>T XP_011540363.1:p.Ala198Val
XM_011542062.1:c.572C>T XP_011540364.1:p.Ala191Val
XM_011542063.1:c.593C>T XP_011540365.1:p.Ala198Val
XM_011542060.2:c.593C>T XP_011540362.1:p.Ala198Val
XM_011542063.2:c.593C>T XP_011540365.1:p.Ala198Val
XM_017002211.1:c.593C>T XP_016857700.1:p.Ala198Val
XM_017002214.1:c.8C>T XP_016857703.1:p.Ala3Val
XM_017002215.1:c.8C>T XP_016857704.1:p.Ala3Val
NM_001066.3:c.593C>T MANE Select NP_001057.1:p.Ala198Val