Canonical Allele Identifier: CA8414053

Gene: TNFRSF13B

Linked Data

• ClinVar Variation Id: 1056901
• ClinVar RCV Id: RCV001365796 ; RCV002476669
• dbSNP Id: rs549493928
• ExAC: 17:16852214 G / C
• gnomAD v2: 17-16852214-G-C
• gnomAD v3: 17-16948900-G-C
• gnomAD v4: 17-16948900-G-C
• MyVariant Identifiers: chr17:g.16852214G>C (hg19) ; chr17:g.16948900G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16948900G>C , CM000679.2:g.16948900G>C	GRCh38
NC_000017.10:g.16852214G>C , CM000679.1:g.16852214G>C	GRCh37
NC_000017.9:g.16792939G>C	NCBI36
NG_007281.1:g.28189C>G , LRG_120:g.28189C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261652.7:c.283C>G MANE Select	ENSP00000261652.2:p.Gln95Glu
ENST00000261652.6:c.283C>G	ENSP00000261652.2:p.Gln95Glu
ENST00000579315.5:c.283C>G	ENSP00000464069.1:p.Gln95Glu
ENST00000581616.2:n.286C>G
ENST00000582931.5:n.187C>G
ENST00000583789.1:c.145C>G	ENSP00000462952.1:p.Gln49Glu
ENST00000584950.5:c.145C>G	ENSP00000463582.1:p.Gln49Glu
NM_012452.2:c.283C>G , LRG_120t1:c.283C>G	NP_036584.1:p.Gln95Glu
NM_012452.3:c.283C>G MANE Select	NP_036584.1:p.Gln95Glu