Canonical Allele Identifier: CA490899070
Gene: KBTBD13 HGNC NCBI

Linked Data

ClinVar Variation Id: 799170
ClinVar RCV Id: RCV000982753
dbSNP Id: rs750627612
gnomAD v2: 15-65369910-C-T
gnomAD v3: 15-65077572-C-T
gnomAD v4: 15-65077572-C-T
MyVariant Identifiers: chr15:g.65369910C>T (hg19) chr15:g.65077572C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65077572C>T , CM000677.2:g.65077572C>T GRCh38
NC_000015.9:g.65369910C>T , CM000677.1:g.65369910C>T GRCh37
NC_000015.8:g.63156963C>T NCBI36
NG_021411.1:g.5757C>T , LRG_682:g.5757C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000432196.5:c.757C>T MANE Select ENSP00000388723.2:p.Leu253=
ENST00000432196.3:c.757C>T ENSP00000388723.2:p.Leu253=
NM_001101362.2:c.757C>T , LRG_682t1:c.757C>T NP_001094832.1:p.Leu253=
NM_001101362.3:c.757C>T MANE Select NP_001094832.1:p.Leu253=
Search 100 bp 5'
Search 100 bp 3'