Linked Data
ClinVar Variation Id:
143810
dbSNP Id:
rs267608664
ExAC:
X:18664180 C / T
gnomAD v2:
X-18664180-C-T
gnomAD v3:
X-18646060-C-T
gnomAD v4:
X-18646060-C-T
PubMed:
PMID:19241098
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.18646060C>T , CM000685.2:g.18646060C>T | GRCh38 |
| NC_000023.10:g.18664180C>T , CM000685.1:g.18664180C>T | GRCh37 |
| NC_000023.9:g.18574101C>T | NCBI36 |
| NG_008475.1:g.225456C>T | |
| NG_008659.3:g.36389G>A , LRG_702:g.36389G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379984.4:c.326+1131G>A (RS1) MANE Select | ENSP00000369320.3:n.326+1131G>A | |
| ENST00000379984.3:c.326+1131G>A (RS1) | ENSP00000369320.3:n.326+1131G>A | |
| ENST00000379989.6:c.2767C>T (CDKL5) | ENSP00000369325.3:p.Arg923Cys | |
| ENST00000379996.7:c.2767C>T (CDKL5) | ENSP00000369332.3:p.Arg923Cys | |
| ENST00000476595.1:n.817+1131G>A (RS1) | ||
| NM_000330.3:c.326+1131G>A , LRG_702t1:c.326+1131G>A (RS1) | NP_000321.1:n.326+1131G>A | |
| NM_001037343.1:c.2767C>T (CDKL5) | NP_001032420.1:p.Arg923Cys | |
| NM_003159.2:c.2767C>T (CDKL5) | NP_003150.1:p.Arg923Cys | |
| XM_011545569.1:c.2839C>T (CDKL5) | XP_011543871.1:p.Arg947Cys | |
| XM_011545570.1:c.2758C>T (CDKL5) | XP_011543872.1:p.Arg920Cys | |
| XR_950484.1:n.3142C>T (CDKL5) | ||
| NM_000330.4:c.326+1131G>A (RS1) MANE Select | NP_000321.1:n.326+1131G>A | |
| NM_001037343.2:c.2767C>T (CDKL5) | NP_001032420.1:p.Arg923Cys | |
| NM_003159.3:c.2767C>T (CDKL5) | NP_003150.1:p.Arg923Cys |