Linked Data
dbSNP Id:
rs981434245
gnomAD v2:
X-18660049-G-A
gnomAD v3:
X-18641929-G-A
gnomAD v4:
X-18641929-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.18641929G>A , CM000685.2:g.18641929G>A | GRCh38 |
| NC_000023.10:g.18660049G>A , CM000685.1:g.18660049G>A | GRCh37 |
| NC_000023.9:g.18569970G>A | NCBI36 |
| NG_008475.1:g.221325G>A | |
| NG_008659.3:g.40520C>T , LRG_702:g.40520C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379984.4:c.*75C>T (RS1) MANE Select | ENSP00000369320.3:n.*75C>T | |
| ENST00000379984.3:c.*75C>T (RS1) | ENSP00000369320.3:n.*75C>T | |
| ENST00000379989.6:c.2714-4078G>A (CDKL5) | ENSP00000369325.3:n.2714-4078G>A | |
| ENST00000379996.7:c.2714-4078G>A (CDKL5) | ENSP00000369332.3:n.2714-4078G>A | |
| ENST00000476595.1:n.1241C>T (RS1) | ||
| NM_000330.3:c.*75C>T , LRG_702t1:c.*75C>T (RS1) | NP_000321.1:n.*75C>T | |
| NM_001037343.1:c.2714-4078G>A (CDKL5) | NP_001032420.1:n.2714-4078G>A | |
| NM_003159.2:c.2714-4078G>A (CDKL5) | NP_003150.1:n.2714-4078G>A | |
| XM_011545569.1:c.2786-4078G>A (CDKL5) | XP_011543871.1:n.2786-4078G>A | |
| XM_011545570.1:c.2705-4078G>A (CDKL5) | XP_011543872.1:n.2705-4078G>A | |
| XR_950484.1:n.3089-4078G>A (CDKL5) | ||
| NM_000330.4:c.*75C>T (RS1) MANE Select | NP_000321.1:n.*75C>T | |
| NM_001037343.2:c.2714-4078G>A (CDKL5) | NP_001032420.1:n.2714-4078G>A | |
| NM_003159.3:c.2714-4078G>A (CDKL5) | NP_003150.1:n.2714-4078G>A |