Canonical Allele Identifier: CA18031425
Gene: TNFRSF1B HGNC NCBI

Linked Data

dbSNP Id: rs962221522
gnomAD v2: 1-12262778-T-G
gnomAD v3: 1-12202721-T-G
gnomAD v4: 1-12202721-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.12202721T>G , CM000663.2:g.12202721T>G GRCh38
NC_000001.10:g.12262778T>G , CM000663.1:g.12262778T>G GRCh37
NC_000001.9:g.12185365T>G NCBI36
NG_029791.1:g.40719T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000376259.7:c.1105+550T>G MANE Select ENSP00000365435.3:n.1105+550T>G
ENST00000376259.6:c.1105+550T>G ENSP00000365435.3:n.1105+550T>G
ENST00000492361.1:n.1094+550T>G
NM_001066.2:c.1105+550T>G NP_001057.1:n.1105+550T>G
XM_011542060.1:c.1171+149T>G XP_011540362.1:n.1171+149T>G
XM_011542061.1:c.1171+149T>G XP_011540363.1:n.1171+149T>G
XM_011542062.1:c.1150+149T>G XP_011540364.1:n.1150+149T>G
XM_011542063.1:c.1105+550T>G XP_011540365.1:n.1105+550T>G
XM_011542060.2:c.1171+149T>G XP_011540362.1:n.1171+149T>G
XM_011542063.2:c.1105+550T>G XP_011540365.1:n.1105+550T>G
XM_017002214.1:c.586+149T>G XP_016857703.1:n.586+149T>G
XM_017002215.1:c.520+550T>G XP_016857704.1:n.520+550T>G
NM_001066.3:c.1105+550T>G MANE Select NP_001057.1:n.1105+550T>G