Canonical Allele Identifier: CA117387

Gene: TNFRSF13B

Linked Data

• ClinVar Variation Id: 5302
• ClinVar RCV Id: RCV000005623 ; RCV000005624 ; RCV000302082 ; RCV000403933 ; RCV000507544 ; RCV000735370 ; RCV001374734 ; RCV001535526 ; RCV001526850 ; RCV002054418 ; RCV002283439 ; RCV003398448 ; RCV003448244
• dbSNP Id: rs34557412
• ExAC: 17:16852187 A / G
• gnomAD v2: 17-16852187-A-G
• gnomAD v3: 17-16948873-A-G
• gnomAD v4: 17-16948873-A-G
• MyVariant Identifiers: chr17:g.16852187A>G (hg19) ; chr17:g.16948873A>G (hg38)
• PubMed: PMID:16007086 ; PMID:16007087 ; PMID:16630947 ; PMID:16782407 ; PMID:17192819 ; PMID:17392797 ; PMID:17392798 ; PMID:17464555 ; PMID:17492055 ; PMID:17917015 ; PMID:17983875 ; PMID:18981294 ; PMID:19210517 ; PMID:19392801 ; PMID:19629655 ; PMID:19779048 ; PMID:20006554 ; PMID:20889194 ; PMID:21458042 ; PMID:21547394 ; PMID:21850030 ; PMID:25326637 ; PMID:26100089

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16948873A>G , CM000679.2:g.16948873A>G	GRCh38
NC_000017.10:g.16852187A>G , CM000679.1:g.16852187A>G	GRCh37
NC_000017.9:g.16792912A>G	NCBI36
NG_007281.1:g.28216T>C , LRG_120:g.28216T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261652.7:c.310T>C MANE Select	ENSP00000261652.2:p.Cys104Arg
ENST00000261652.6:c.310T>C	ENSP00000261652.2:p.Cys104Arg
ENST00000579315.5:c.310T>C	ENSP00000464069.1:p.Cys104Arg
ENST00000581616.2:n.313T>C
ENST00000582931.5:n.214T>C
ENST00000583789.1:c.172T>C	ENSP00000462952.1:p.Cys58Arg
ENST00000584950.5:c.172T>C	ENSP00000463582.1:p.Cys58Arg
NM_012452.2:c.310T>C , LRG_120t1:c.310T>C	NP_036584.1:p.Cys104Arg
NM_012452.3:c.310T>C MANE Select	NP_036584.1:p.Cys104Arg