Canonical Allele Identifier: CA7613964
Gene: KBTBD13 HGNC NCBI

Linked Data

ClinVar Variation Id: 581243
ClinVar RCV Id: RCV000705008 RCV003279026
dbSNP Id: rs767990371
ExAC: 15:65369882 C / G
gnomAD v2: 15-65369882-C-G
gnomAD v3: 15-65077544-C-G
gnomAD v4: 15-65077544-C-G
MyVariant Identifiers: chr15:g.65369882C>G (hg19) chr15:g.65077544C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65077544C>G , CM000677.2:g.65077544C>G GRCh38
NC_000015.9:g.65369882C>G , CM000677.1:g.65369882C>G GRCh37
NC_000015.8:g.63156935C>G NCBI36
NG_021411.1:g.5729C>G , LRG_682:g.5729C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000432196.5:c.729C>G MANE Select ENSP00000388723.2:p.Ser243Arg
ENST00000432196.3:c.729C>G ENSP00000388723.2:p.Ser243Arg
NM_001101362.2:c.729C>G , LRG_682t1:c.729C>G NP_001094832.1:p.Ser243Arg
NM_001101362.3:c.729C>G MANE Select NP_001094832.1:p.Ser243Arg
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