Canonical Allele Identifier: CA7613944
Gene: KBTBD13 HGNC NCBI

Linked Data

ClinVar Variation Id: 1588190
ClinVar RCV Id: RCV002116957
dbSNP Id: rs752006739
ExAC: 15:65369759 C / T
gnomAD v2: 15-65369759-C-T
gnomAD v3: 15-65077421-C-T
gnomAD v4: 15-65077421-C-T
MyVariant Identifiers: chr15:g.65369759C>T (hg19) chr15:g.65077421C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65077421C>T , CM000677.2:g.65077421C>T GRCh38
NC_000015.9:g.65369759C>T , CM000677.1:g.65369759C>T GRCh37
NC_000015.8:g.63156812C>T NCBI36
NG_021411.1:g.5606C>T , LRG_682:g.5606C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000432196.5:c.606C>T MANE Select ENSP00000388723.2:p.Ala202=
ENST00000432196.3:c.606C>T ENSP00000388723.2:p.Ala202=
NM_001101362.2:c.606C>T , LRG_682t1:c.606C>T NP_001094832.1:p.Ala202=
NM_001101362.3:c.606C>T MANE Select NP_001094832.1:p.Ala202=
Search 100 bp 5'
Search 100 bp 3'