Linked Data
ClinVar Variation Id:
500991
ClinVar RCV Id:
RCV000596362
dbSNP Id:
rs768289707
ExAC:
X:18671645 C / T
gnomAD v4:
X-18653525-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.18653525C>T , CM000685.2:g.18653525C>T | GRCh38 |
| NC_000023.10:g.18671645C>T , CM000685.1:g.18671645C>T | GRCh37 |
| NC_000023.9:g.18581566C>T | NCBI36 |
| NG_008475.1:g.232921C>T | |
| NG_008659.3:g.28924G>A , LRG_702:g.28924G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379984.4:c.184+3128G>A (RS1) MANE Select | ENSP00000369320.3:n.184+3128G>A | |
| ENST00000673617.1:n.346C>T (CDKL5) | ||
| ENST00000379984.3:c.184+3128G>A (RS1) | ENSP00000369320.3:n.184+3128G>A | |
| ENST00000379989.6:c.3074C>T (CDKL5) | ENSP00000369325.3:p.Ala1025Val | |
| ENST00000379996.7:c.3074C>T (CDKL5) | ENSP00000369332.3:p.Ala1025Val | |
| NM_000330.3:c.184+3128G>A , LRG_702t1:c.184+3128G>A (RS1) | NP_000321.1:n.184+3128G>A | |
| NM_001037343.1:c.3074C>T (CDKL5) | NP_001032420.1:p.Ala1025Val | |
| NM_003159.2:c.3074C>T (CDKL5) | NP_003150.1:p.Ala1025Val | |
| XM_011545569.1:c.3146C>T (CDKL5) | XP_011543871.1:p.Ala1049Val | |
| XM_011545570.1:c.3065C>T (CDKL5) | XP_011543872.1:p.Ala1022Val | |
| XR_950484.1:n.3449C>T (CDKL5) | ||
| NM_000330.4:c.184+3128G>A (RS1) MANE Select | NP_000321.1:n.184+3128G>A | |
| NM_001037343.2:c.3074C>T (CDKL5) | NP_001032420.1:p.Ala1025Val | |
| NM_003159.3:c.3074C>T (CDKL5) | NP_003150.1:p.Ala1025Val |