Canonical Allele Identifier: CA255831
Gene: BTK HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 11378
dbSNP Id: rs128621202

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101356059C>T , CM000685.2:g.101356059C>T GRCh38
NC_000023.9:g.100497703C>T NCBI36
NC_000023.10:g.100611047C>T , CM000685.1:g.100611047C>T GRCh37
NG_009616.1:g.35166G>A , LRG_128:g.35166G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000308731.7:c.1559G>A ENSP00000308176.7:p.Arg520Gln
ENST00000372880.5:c.1039-1365G>A ENSP00000361971.1:p.=
ENST00000478995.1:n.231G>A
ENST00000618050.4:n.1559G>A ENSP00000479125.1:p.Arg520Gln
ENST00000621635.4:c.1661G>A ENSP00000483570.1:p.Arg554Gln
NM_000061.2:c.1559G>A , LRG_128t1:c.1559G>A NP_000052.1:p.Arg520Gln
NM_001287344.1:c.1661G>A VV NP_001274273.1:p.Arg554Gln
NM_001287345.1:c.1039-1365G>A VV NP_001274274.1:p.=