Canonical Allele Identifier: CA4854971
Gene: TNFRSF11B HGNC NCBI

Linked Data

ClinVar Variation Id: 1512768
ClinVar RCV Id: RCV002018240
dbSNP Id: rs116321565
ExAC: 8:119945383 C / T
gnomAD v2: 8-119945383-C-T
gnomAD v3: 8-118933144-C-T
gnomAD v4: 8-118933144-C-T
MyVariant Identifiers: chr8:g.119945383C>T (hg19) chr8:g.118933144C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118933144C>T , CM000670.2:g.118933144C>T GRCh38
NC_000008.10:g.119945383C>T , CM000670.1:g.119945383C>T GRCh37
NC_000008.9:g.120014564C>T NCBI36
NG_012202.1:g.24001G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297350.9:c.187G>A MANE Select ENSP00000297350.4:p.Ala63Thr
ENST00000297350.8:c.187G>A ENSP00000297350.4:p.Ala63Thr
ENST00000517352.1:c.187G>A ENSP00000427924.1:p.Ala63Thr
NM_002546.3:c.187G>A NP_002537.3:p.Ala63Thr
NM_002546.4:c.187G>A MANE Select NP_002537.3:p.Ala63Thr
Search 100 bp 5'
Search 100 bp 3'