Canonical Allele Identifier: CA255818
Gene: BTK HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 11373
ClinVar RCV Id: RCV000012126
dbSNP Id: rs128621198

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101356910A>G , CM000685.2:g.101356910A>G GRCh38
NC_000023.10:g.100611898A>G , CM000685.1:g.100611898A>G GRCh37
NC_000023.9:g.100498554A>G NCBI36
NG_009616.1:g.34315T>C , LRG_128:g.34315T>C

Transcript Alleles

HGVS Amino-acid change
NM_000061.2:c.1223T>C , LRG_128t1:c.1223T>C NP_000052.1:p.Leu408Pro
NM_001287344.1:c.1325T>C VV NP_001274273.1:p.Leu442Pro
NM_001287345.1:c.1038+1464T>C VV NP_001274274.1:p.=
ENST00000308731.7:c.1223T>C ENSP00000308176.7:p.Leu408Pro
ENST00000372880.5:c.1038+1464T>C ENSP00000361971.1:p.=
ENST00000470329.1:n.173T>C
ENST00000618050.4:n.1223T>C ENSP00000479125.1:p.Leu408Pro
ENST00000621635.4:c.1325T>C ENSP00000483570.1:p.Leu442Pro