Canonical Allele Identifier: CA255794
Gene: BTK HGNC NCBI

Linked Data

ClinVar Variation Id: 11348
ClinVar RCV Id: RCV000012101 RCV000583846 RCV000427660 RCV000819061
dbSNP Id: rs128620185
gnomAD v4: X-101375202-C-T
MyVariant Identifiers: chrX:g.100630190C>T (hg19) chrX:g.101375202C>T (hg38)
PubMed: PMID:8090769 PMID:8162018 PMID:11445810
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101375202C>T , CM000685.2:g.101375202C>T GRCh38
NC_000023.10:g.100630190C>T , CM000685.1:g.100630190C>T GRCh37
NC_000023.9:g.100516846C>T NCBI36
NG_009616.1:g.16023G>A , LRG_128:g.16023G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000478995.2:n.243G>A
ENST00000488970.2:n.243G>A
ENST00000695614.1:c.83G>A ENSP00000512053.1:p.Arg28His
ENST00000695615.1:c.83G>A ENSP00000512054.1:p.Arg28His
ENST00000695616.1:c.83G>A ENSP00000512055.1:p.Arg28His
ENST00000695617.1:c.83G>A ENSP00000512056.1:p.Arg28His
ENST00000695618.1:c.83G>A ENSP00000512058.1:p.Arg28His
ENST00000695619.1:c.83G>A ENSP00000512059.1:p.Arg28His
ENST00000695620.1:c.83G>A ENSP00000512060.1:p.Arg28His
ENST00000695621.1:c.83G>A ENSP00000512061.1:p.Arg28His
ENST00000695622.1:c.83G>A ENSP00000512062.1:p.Arg28His
ENST00000695623.1:c.83G>A ENSP00000512063.1:p.Arg28His
ENST00000695625.1:c.83G>A ENSP00000512064.1:p.Arg28His
ENST00000695633.1:n.396G>A
ENST00000695643.1:c.83G>A ENSP00000512078.1:p.Arg28His
ENST00000703407.1:c.83G>A ENSP00000512057.1:p.Arg28His
ENST00000308731.8:c.83G>A MANE Select ENSP00000308176.8:p.Arg28His
ENST00000308731.7:c.83G>A ENSP00000308176.7:p.Arg28His
ENST00000372880.5:c.83G>A ENSP00000361971.1:p.Arg28His
ENST00000464567.1:n.200G>A
ENST00000618050.4:c.83G>A ENSP00000479125.1:p.Arg28His
ENST00000621635.4:c.185G>A ENSP00000483570.1:p.Arg62His
NM_000061.2:c.83G>A , LRG_128t1:c.83G>A NP_000052.1:p.Arg28His
NM_001287344.1:c.185G>A NP_001274273.1:p.Arg62His
NM_001287345.1:c.83G>A NP_001274274.1:p.Arg28His
NM_000061.3:c.83G>A MANE Select NP_000052.1:p.Arg28His
NM_001287344.2:c.185G>A NP_001274273.1:p.Arg62His
NM_001287345.2:c.83G>A NP_001274274.1:p.Arg28His
Search 100 bp 5'
Search 100 bp 3'