Canonical Allele Identifier: CA255786
Gene: BTK HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 11343
ClinVar RCV Id: RCV000012096
dbSNP Id: rs128620184

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101356845T>C , CM000685.2:g.101356845T>C GRCh38
NC_000023.10:g.100611833T>C , CM000685.1:g.100611833T>C GRCh37
NC_000023.9:g.100498489T>C NCBI36
NG_009616.1:g.34380A>G , LRG_128:g.34380A>G

Transcript Alleles

HGVS Amino-acid change
NM_000061.2:c.1288A>G , LRG_128t1:c.1288A>G NP_000052.1:p.Lys430Glu
NM_001287344.1:c.1390A>G VV NP_001274273.1:p.Lys464Glu
NM_001287345.1:c.1038+1529A>G VV NP_001274274.1:p.=
ENST00000308731.7:c.1288A>G ENSP00000308176.7:p.Lys430Glu
ENST00000372880.5:c.1038+1529A>G ENSP00000361971.1:p.=
ENST00000470329.1:n.238A>G
ENST00000618050.4:n.1288A>G ENSP00000479125.1:p.Lys430Glu
ENST00000621635.4:c.1390A>G ENSP00000483570.1:p.Lys464Glu