Canonical Allele Identifier: CA7613958
Gene: KBTBD13 HGNC NCBI

Linked Data

ClinVar Variation Id: 2706557
ClinVar RCV Id: RCV003525694
dbSNP Id: rs768422348
ExAC: 15:65369850 C / A
gnomAD v2: 15-65369850-C-A
gnomAD v3: 15-65077512-C-A
gnomAD v4: 15-65077512-C-A
MyVariant Identifiers: chr15:g.65369850C>A (hg19) chr15:g.65077512C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65077512C>A , CM000677.2:g.65077512C>A GRCh38
NC_000015.9:g.65369850C>A , CM000677.1:g.65369850C>A GRCh37
NC_000015.8:g.63156903C>A NCBI36
NG_021411.1:g.5697C>A , LRG_682:g.5697C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000432196.5:c.697C>A MANE Select ENSP00000388723.2:p.Pro233Thr
ENST00000432196.3:c.697C>A ENSP00000388723.2:p.Pro233Thr
NM_001101362.2:c.697C>A , LRG_682t1:c.697C>A NP_001094832.1:p.Pro233Thr
NM_001101362.3:c.697C>A MANE Select NP_001094832.1:p.Pro233Thr
Search 100 bp 5'
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