Linked Data
ClinVar Variation Id:
9890
dbSNP Id:
rs104894933
gnomAD v2:
X-18665416-C-A
gnomAD v3:
X-18647296-C-A
gnomAD v4:
X-18647296-C-A
PubMed:
PMID:10234514
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.18647296C>A , CM000685.2:g.18647296C>A | GRCh38 |
| NC_000023.10:g.18665416C>A , CM000685.1:g.18665416C>A | GRCh37 |
| NC_000023.9:g.18575337C>A | NCBI36 |
| NG_008475.1:g.226692C>A | |
| NG_008659.3:g.35153G>T , LRG_702:g.35153G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379984.4:c.221G>T (RS1) MANE Select | ENSP00000369320.3:p.Gly74Val | |
| ENST00000379984.3:c.221G>T (RS1) | ENSP00000369320.3:p.Gly74Val | |
| ENST00000379989.6:c.2797+1206C>A (CDKL5) | ENSP00000369325.3:n.2797+1206C>A | |
| ENST00000379996.7:c.2797+1206C>A (CDKL5) | ENSP00000369332.3:n.2797+1206C>A | |
| ENST00000476595.1:n.712G>T (RS1) | ||
| NM_000330.3:c.221G>T , LRG_702t1:c.221G>T (RS1) | NP_000321.1:p.Gly74Val | |
| NM_001037343.1:c.2797+1206C>A (CDKL5) | NP_001032420.1:n.2797+1206C>A | |
| NM_003159.2:c.2797+1206C>A (CDKL5) | NP_003150.1:n.2797+1206C>A | |
| XM_011545569.1:c.2869+1206C>A (CDKL5) | XP_011543871.1:n.2869+1206C>A | |
| XM_011545570.1:c.2788+1206C>A (CDKL5) | XP_011543872.1:n.2788+1206C>A | |
| XR_950484.1:n.3172+1206C>A (CDKL5) | ||
| NM_000330.4:c.221G>T (RS1) MANE Select | NP_000321.1:p.Gly74Val | |
| NM_001037343.2:c.2797+1206C>A (CDKL5) | NP_001032420.1:n.2797+1206C>A | |
| NM_003159.3:c.2797+1206C>A (CDKL5) | NP_003150.1:n.2797+1206C>A |