Canonical Allele Identifier: CA260197
Gene: BTK HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 35764
ClinVar RCV Id: RCV000029416
dbSNP Id: rs193922131

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101359348C>T , CM000685.2:g.101359348C>T GRCh38
NC_000023.10:g.100614336C>T , CM000685.1:g.100614336C>T GRCh37
NC_000023.9:g.100500992C>T NCBI36
NG_009616.1:g.31877G>A , LRG_128:g.31877G>A

Transcript Alleles

HGVS Amino-acid change
NM_000061.2:c.840-1G>A , LRG_128t1:c.840-1G>A NP_000052.1:p.=
NM_001287344.1:c.942-1G>A VV NP_001274273.1:p.=
NM_001287345.1:c.840-1G>A VV NP_001274274.1:p.=
ENST00000308731.7:c.840-1G>A ENSP00000308176.7:p.=
ENST00000372880.5:c.840-1G>A ENSP00000361971.1:p.=
ENST00000618050.4:n.840-1G>A ENSP00000479125.1:p.=
ENST00000621635.4:c.942-1G>A ENSP00000483570.1:p.=