Linked Data
ClinVar Variation Id:
156693
dbSNP Id:
rs587783160
ExAC:
X:18664152 G / C
gnomAD v2:
X-18664152-G-C
gnomAD v3:
X-18646032-G-C
gnomAD v4:
X-18646032-G-C
ERepo:
CA294768/MONDO:0100039/033
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.18646032G>C , CM000685.2:g.18646032G>C | GRCh38 |
| NC_000023.10:g.18664152G>C , CM000685.1:g.18664152G>C | GRCh37 |
| NC_000023.9:g.18574073G>C | NCBI36 |
| NG_008475.1:g.225428G>C | |
| NG_008659.3:g.36417C>G , LRG_702:g.36417C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379984.4:c.326+1159C>G (RS1) MANE Select | ENSP00000369320.3:n.326+1159C>G | |
| ENST00000379984.3:c.326+1159C>G (RS1) | ENSP00000369320.3:n.326+1159C>G | |
| ENST00000379989.6:c.2739G>C (CDKL5) | ENSP00000369325.3:p.Gln913His | |
| ENST00000379996.7:c.2739G>C (CDKL5) | ENSP00000369332.3:p.Gln913His | |
| ENST00000476595.1:n.817+1159C>G (RS1) | ||
| NM_000330.3:c.326+1159C>G , LRG_702t1:c.326+1159C>G (RS1) | NP_000321.1:n.326+1159C>G | |
| NM_001037343.1:c.2739G>C (CDKL5) | NP_001032420.1:p.Gln913His | |
| NM_003159.2:c.2739G>C (CDKL5) | NP_003150.1:p.Gln913His | |
| XM_011545569.1:c.2811G>C (CDKL5) | XP_011543871.1:p.Gln937His | |
| XM_011545570.1:c.2730G>C (CDKL5) | XP_011543872.1:p.Gln910His | |
| XR_950484.1:n.3114G>C (CDKL5) | ||
| NM_000330.4:c.326+1159C>G (RS1) MANE Select | NP_000321.1:n.326+1159C>G | |
| NM_001037343.2:c.2739G>C (CDKL5) | NP_001032420.1:p.Gln913His | |
| NM_003159.3:c.2739G>C (CDKL5) | NP_003150.1:p.Gln913His |