Canonical Allele Identifier: CA8414068
Gene: TNFRSF13B HGNC NCBI

Linked Data

ClinVar Variation Id: 840913
ClinVar RCV Id: RCV001043027 RCV002497376 RCV003141958 RCV003405236
dbSNP Id: rs375514495
ExAC: 17:16852283 G / A
gnomAD v2: 17-16852283-G-A
gnomAD v3: 17-16948969-G-A
gnomAD v4: 17-16948969-G-A
COSMIC: COSM4064263
MyVariant Identifiers: chr17:g.16852283G>A (hg19) chr17:g.16948969G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.16948969G>A , CM000679.2:g.16948969G>A GRCh38
NC_000017.10:g.16852283G>A , CM000679.1:g.16852283G>A GRCh37
NC_000017.9:g.16793008G>A NCBI36
NG_007281.1:g.28120C>T , LRG_120:g.28120C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261652.7:c.214C>T MANE Select ENSP00000261652.2:p.Arg72Cys
ENST00000261652.6:c.214C>T ENSP00000261652.2:p.Arg72Cys
ENST00000579315.5:c.214C>T ENSP00000464069.1:p.Arg72Cys
ENST00000581616.2:n.217C>T
ENST00000582931.5:n.118C>T
ENST00000583789.1:c.76C>T ENSP00000462952.1:p.Arg26Cys
ENST00000584950.5:c.76C>T ENSP00000463582.1:p.Arg26Cys
NM_012452.2:c.214C>T , LRG_120t1:c.214C>T NP_036584.1:p.Arg72Cys
NM_012452.3:c.214C>T MANE Select NP_036584.1:p.Arg72Cys
Search 100 bp 5'
Search 100 bp 3'