Canonical Allele Identifier: CA8414067
Gene: TNFRSF13B HGNC NCBI

Linked Data

ClinVar Variation Id: 322027
ClinVar RCV Id: RCV000266832 RCV000441515 RCV000762233 RCV001086588 RCV003224261
dbSNP Id: rs55916807
ExAC: 17:16852282 C / T
gnomAD v2: 17-16852282-C-T
gnomAD v3: 17-16948968-C-T
gnomAD v4: 17-16948968-C-T
MyVariant Identifiers: chr17:g.16852282C>T (hg19) chr17:g.16948968C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.16948968C>T , CM000679.2:g.16948968C>T GRCh38
NC_000017.10:g.16852282C>T , CM000679.1:g.16852282C>T GRCh37
NC_000017.9:g.16793007C>T NCBI36
NG_007281.1:g.28121G>A , LRG_120:g.28121G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261652.7:c.215G>A MANE Select ENSP00000261652.2:p.Arg72His
ENST00000261652.6:c.215G>A ENSP00000261652.2:p.Arg72His
ENST00000579315.5:c.215G>A ENSP00000464069.1:p.Arg72His
ENST00000581616.2:n.218G>A
ENST00000582931.5:n.119G>A
ENST00000583789.1:c.77G>A ENSP00000462952.1:p.Arg26His
ENST00000584950.5:c.77G>A ENSP00000463582.1:p.Arg26His
NM_012452.2:c.215G>A , LRG_120t1:c.215G>A NP_036584.1:p.Arg72His
NM_012452.3:c.215G>A MANE Select NP_036584.1:p.Arg72His
Search 100 bp 5'
Search 100 bp 3'