Linked Data
ClinVar Variation Id:
512938
dbSNP Id:
rs374054249
gnomAD v2:
X-18668673-C-G
gnomAD v3:
X-18650553-C-G
gnomAD v4:
X-18650553-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.18650553C>G , CM000685.2:g.18650553C>G | GRCh38 |
| NC_000023.10:g.18668673C>G , CM000685.1:g.18668673C>G | GRCh37 |
| NC_000023.9:g.18578594C>G | NCBI36 |
| NG_008475.1:g.229949C>G | |
| NG_008659.3:g.31896G>C , LRG_702:g.31896G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379984.4:c.185-3221G>C (RS1) MANE Select | ENSP00000369320.3:n.185-3221G>C | |
| ENST00000673617.1:n.213C>G (CDKL5) | ||
| ENST00000379984.3:c.185-3221G>C (RS1) | ENSP00000369320.3:n.185-3221G>C | |
| ENST00000379989.6:c.2941C>G (CDKL5) | ENSP00000369325.3:p.Arg981Gly | |
| ENST00000379996.7:c.2941C>G (CDKL5) | ENSP00000369332.3:p.Arg981Gly | |
| NM_000330.3:c.185-3221G>C , LRG_702t1:c.185-3221G>C (RS1) | NP_000321.1:n.185-3221G>C | |
| NM_001037343.1:c.2941C>G (CDKL5) | NP_001032420.1:p.Arg981Gly | |
| NM_003159.2:c.2941C>G (CDKL5) | NP_003150.1:p.Arg981Gly | |
| XM_011545569.1:c.3013C>G (CDKL5) | XP_011543871.1:p.Arg1005Gly | |
| XM_011545570.1:c.2932C>G (CDKL5) | XP_011543872.1:p.Arg978Gly | |
| XR_950484.1:n.3316C>G (CDKL5) | ||
| NM_000330.4:c.185-3221G>C (RS1) MANE Select | NP_000321.1:n.185-3221G>C | |
| NM_001037343.2:c.2941C>G (CDKL5) | NP_001032420.1:p.Arg981Gly | |
| NM_003159.3:c.2941C>G (CDKL5) | NP_003150.1:p.Arg981Gly |