Canonical Allele Identifier: CA8413859
Gene: TNFRSF13B HGNC NCBI
COSMIC:
COSM6280929 (not active)
COSM6280930 (not active)
MyVariant.info:
GRCh38 chr17:g.16939677G>A
GRCh37 chr17:g.16842991G>A
Revel Score:
ENST00000437538 0.261
ENST00000261652 (MANE Select) 0.261
gnomAD v2:
17:16842991 G / A
gnomAD v3:
17:16939677 G / A
gnomAD v4:
chr17-16939677-G-A
Joint Max Group AF 0.3798409 (EAS)
Genomes Max Group AF 0.38847418 (EAS)
Exomes Max Group AF 0.37718035 (EAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.16939677G>A , CM000679.2:g.16939677G>A GRCh38
NC_000017.10:g.16842991G>A , CM000679.1:g.16842991G>A GRCh37
NC_000017.9:g.16783716G>A NCBI36
NG_007281.1:g.37412C>T , LRG_120:g.37412C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261652.7:c.752C>T MANE Select ENSP00000261652.2:p.Pro251Leu
ENST00000261652.6:c.752C>T ENSP00000261652.2:p.Pro251Leu
ENST00000579009.1:n.1386C>T
ENST00000579315.5:c.446-6501C>T ENSP00000464069.1:n.446-6501C>T
ENST00000582931.5:n.350-6740C>T
ENST00000583789.1:c.614C>T ENSP00000462952.1:p.Pro205Leu
ENST00000584950.5:c.614C>T ENSP00000463582.1:p.Pro205Leu
NM_012452.2:c.752C>T , LRG_120t1:c.752C>T NP_036584.1:p.Pro251Leu
NM_012452.3:c.752C>T MANE Select NP_036584.1:p.Pro251Leu
Search 100 bp 5'
Search 100 bp 3'