Canonical Allele Identifier: CA7613976
Gene: KBTBD13 HGNC NCBI

Linked Data

ClinVar Variation Id: 567242
ClinVar RCV Id: RCV000687261
dbSNP Id: rs780964425
ExAC: 15:65369928 C / T
gnomAD v2: 15-65369928-C-T
gnomAD v3: 15-65077590-C-T
gnomAD v4: 15-65077590-C-T
MyVariant Identifiers: chr15:g.65369928C>T (hg19) chr15:g.65077590C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65077590C>T , CM000677.2:g.65077590C>T GRCh38
NC_000015.9:g.65369928C>T , CM000677.1:g.65369928C>T GRCh37
NC_000015.8:g.63156981C>T NCBI36
NG_021411.1:g.5775C>T , LRG_682:g.5775C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000432196.5:c.775C>T MANE Select ENSP00000388723.2:p.Arg259Cys
ENST00000432196.3:c.775C>T ENSP00000388723.2:p.Arg259Cys
NM_001101362.2:c.775C>T , LRG_682t1:c.775C>T NP_001094832.1:p.Arg259Cys
NM_001101362.3:c.775C>T MANE Select NP_001094832.1:p.Arg259Cys
Search 100 bp 5'
Search 100 bp 3'