Canonical Allele Identifier: CA8414061
Gene: TNFRSF13B HGNC NCBI

Linked Data

ClinVar Variation Id: 281110
ClinVar RCV Id: RCV000327211 RCV000648139 RCV000723608 RCV003947825
dbSNP Id: rs72553876
ExAC: 17:16852261 T / C
gnomAD v2: 17-16852261-T-C
gnomAD v3: 17-16948947-T-C
gnomAD v4: 17-16948947-T-C
MyVariant Identifiers: chr17:g.16852261T>C (hg19) chr17:g.16948947T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.16948947T>C , CM000679.2:g.16948947T>C GRCh38
NC_000017.10:g.16852261T>C , CM000679.1:g.16852261T>C GRCh37
NC_000017.9:g.16792986T>C NCBI36
NG_007281.1:g.28142A>G , LRG_120:g.28142A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261652.7:c.236A>G MANE Select ENSP00000261652.2:p.Tyr79Cys
ENST00000261652.6:c.236A>G ENSP00000261652.2:p.Tyr79Cys
ENST00000579315.5:c.236A>G ENSP00000464069.1:p.Tyr79Cys
ENST00000581616.2:n.239A>G
ENST00000582931.5:n.140A>G
ENST00000583789.1:c.98A>G ENSP00000462952.1:p.Tyr33Cys
ENST00000584950.5:c.98A>G ENSP00000463582.1:p.Tyr33Cys
NM_012452.2:c.236A>G , LRG_120t1:c.236A>G NP_036584.1:p.Tyr79Cys
NM_012452.3:c.236A>G MANE Select NP_036584.1:p.Tyr79Cys
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