Canonical Allele Identifier: CA392863113
Gene: KBTBD13 HGNC NCBI

Linked Data

ClinVar Variation Id: 464361
ClinVar RCV Id: RCV000557345
dbSNP Id: rs568675071
gnomAD v2: 15-65369922-G-A
gnomAD v4: 15-65077584-G-A
COSMIC: COSM231328
MyVariant Identifiers: chr15:g.65369922G>A (hg19) chr15:g.65077584G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65077584G>A , CM000677.2:g.65077584G>A GRCh38
NC_000015.9:g.65369922G>A , CM000677.1:g.65369922G>A GRCh37
NC_000015.8:g.63156975G>A NCBI36
NG_021411.1:g.5769G>A , LRG_682:g.5769G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000432196.5:c.769G>A MANE Select ENSP00000388723.2:p.Asp257Asn
ENST00000432196.3:c.769G>A ENSP00000388723.2:p.Asp257Asn
NM_001101362.2:c.769G>A , LRG_682t1:c.769G>A NP_001094832.1:p.Asp257Asn
NM_001101362.3:c.769G>A MANE Select NP_001094832.1:p.Asp257Asn
Search 100 bp 5'
Search 100 bp 3'