Linked Data
ClinVar Variation Id:
434667
dbSNP Id:
rs767312604
ExAC:
X:18668589 G / T
gnomAD v2:
X-18668589-G-T
gnomAD v4:
X-18650469-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.18650469G>T , CM000685.2:g.18650469G>T | GRCh38 |
| NC_000023.10:g.18668589G>T , CM000685.1:g.18668589G>T | GRCh37 |
| NC_000023.9:g.18578510G>T | NCBI36 |
| NG_008475.1:g.229865G>T | |
| NG_008659.3:g.31980C>A , LRG_702:g.31980C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379984.4:c.185-3137C>A (RS1) MANE Select | ENSP00000369320.3:n.185-3137C>A | |
| ENST00000673617.1:n.129G>T (CDKL5) | ||
| ENST00000379984.3:c.185-3137C>A (RS1) | ENSP00000369320.3:n.185-3137C>A | |
| ENST00000379989.6:c.2857G>T (CDKL5) | ENSP00000369325.3:p.Ala953Ser | |
| ENST00000379996.7:c.2857G>T (CDKL5) | ENSP00000369332.3:p.Ala953Ser | |
| ENST00000476595.1:n.69C>A (RS1) | ||
| NM_000330.3:c.185-3137C>A , LRG_702t1:c.185-3137C>A (RS1) | NP_000321.1:n.185-3137C>A | |
| NM_001037343.1:c.2857G>T (CDKL5) | NP_001032420.1:p.Ala953Ser | |
| NM_003159.2:c.2857G>T (CDKL5) | NP_003150.1:p.Ala953Ser | |
| XM_011545569.1:c.2929G>T (CDKL5) | XP_011543871.1:p.Ala977Ser | |
| XM_011545570.1:c.2848G>T (CDKL5) | XP_011543872.1:p.Ala950Ser | |
| XR_950484.1:n.3232G>T (CDKL5) | ||
| NM_000330.4:c.185-3137C>A (RS1) MANE Select | NP_000321.1:n.185-3137C>A | |
| NM_001037343.2:c.2857G>T (CDKL5) | NP_001032420.1:p.Ala953Ser | |
| NM_003159.3:c.2857G>T (CDKL5) | NP_003150.1:p.Ala953Ser |