Canonical Allele Identifier: CA18031431
Gene: TNFRSF1B HGNC NCBI

Linked Data

dbSNP Id: rs533839588
gnomAD v2: 1-12262788-T-C
gnomAD v3: 1-12202731-T-C
gnomAD v4: 1-12202731-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.12202731T>C , CM000663.2:g.12202731T>C GRCh38
NC_000001.10:g.12262788T>C , CM000663.1:g.12262788T>C GRCh37
NC_000001.9:g.12185375T>C NCBI36
NG_029791.1:g.40729T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000376259.7:c.1105+560T>C MANE Select ENSP00000365435.3:n.1105+560T>C
ENST00000376259.6:c.1105+560T>C ENSP00000365435.3:n.1105+560T>C
ENST00000492361.1:n.1094+560T>C
NM_001066.2:c.1105+560T>C NP_001057.1:n.1105+560T>C
XM_011542060.1:c.1171+159T>C XP_011540362.1:n.1171+159T>C
XM_011542061.1:c.1171+159T>C XP_011540363.1:n.1171+159T>C
XM_011542062.1:c.1150+159T>C XP_011540364.1:n.1150+159T>C
XM_011542063.1:c.1105+560T>C XP_011540365.1:n.1105+560T>C
XM_011542060.2:c.1171+159T>C XP_011540362.1:n.1171+159T>C
XM_011542063.2:c.1105+560T>C XP_011540365.1:n.1105+560T>C
XM_017002214.1:c.586+159T>C XP_016857703.1:n.586+159T>C
XM_017002215.1:c.520+560T>C XP_016857704.1:n.520+560T>C
NM_001066.3:c.1105+560T>C MANE Select NP_001057.1:n.1105+560T>C