Linked Data
ClinVar Variation Id:
420737
dbSNP Id:
rs1064794669
gnomAD v2:
X-18668613-C-G
gnomAD v3:
X-18650493-C-G
gnomAD v4:
X-18650493-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.18650493C>G , CM000685.2:g.18650493C>G | GRCh38 |
| NC_000023.10:g.18668613C>G , CM000685.1:g.18668613C>G | GRCh37 |
| NC_000023.9:g.18578534C>G | NCBI36 |
| NG_008475.1:g.229889C>G | |
| NG_008659.3:g.31956G>C , LRG_702:g.31956G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379984.4:c.185-3161G>C (RS1) MANE Select | ENSP00000369320.3:n.185-3161G>C | |
| ENST00000673617.1:n.153C>G (CDKL5) | ||
| ENST00000379984.3:c.185-3161G>C (RS1) | ENSP00000369320.3:n.185-3161G>C | |
| ENST00000379989.6:c.2881C>G (CDKL5) | ENSP00000369325.3:p.Pro961Ala | |
| ENST00000379996.7:c.2881C>G (CDKL5) | ENSP00000369332.3:p.Pro961Ala | |
| ENST00000476595.1:n.45G>C (RS1) | ||
| NM_000330.3:c.185-3161G>C , LRG_702t1:c.185-3161G>C (RS1) | NP_000321.1:n.185-3161G>C | |
| NM_001037343.1:c.2881C>G (CDKL5) | NP_001032420.1:p.Pro961Ala | |
| NM_003159.2:c.2881C>G (CDKL5) | NP_003150.1:p.Pro961Ala | |
| XM_011545569.1:c.2953C>G (CDKL5) | XP_011543871.1:p.Pro985Ala | |
| XM_011545570.1:c.2872C>G (CDKL5) | XP_011543872.1:p.Pro958Ala | |
| XR_950484.1:n.3256C>G (CDKL5) | ||
| NM_000330.4:c.185-3161G>C (RS1) MANE Select | NP_000321.1:n.185-3161G>C | |
| NM_001037343.2:c.2881C>G (CDKL5) | NP_001032420.1:p.Pro961Ala | |
| NM_003159.3:c.2881C>G (CDKL5) | NP_003150.1:p.Pro961Ala |