Canonical Allele Identifier: CA7613967
Gene: KBTBD13 HGNC NCBI

Linked Data

ClinVar Variation Id: 316744
ClinVar RCV Id: RCV000414516 RCV000639957 RCV001579432
dbSNP Id: rs200549195
ExAC: 15:65369895 C / T
gnomAD v2: 15-65369895-C-T
gnomAD v3: 15-65077557-C-T
gnomAD v4: 15-65077557-C-T
MyVariant Identifiers: chr15:g.65369895C>T (hg19) chr15:g.65077557C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65077557C>T , CM000677.2:g.65077557C>T GRCh38
NC_000015.9:g.65369895C>T , CM000677.1:g.65369895C>T GRCh37
NC_000015.8:g.63156948C>T NCBI36
NG_021411.1:g.5742C>T , LRG_682:g.5742C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000432196.5:c.742C>T MANE Select ENSP00000388723.2:p.Arg248Cys
ENST00000432196.3:c.742C>T ENSP00000388723.2:p.Arg248Cys
NM_001101362.2:c.742C>T , LRG_682t1:c.742C>T NP_001094832.1:p.Arg248Cys
NM_001101362.3:c.742C>T MANE Select NP_001094832.1:p.Arg248Cys
Search 100 bp 5'
Search 100 bp 3'