Linked Data
ClinVar Variation Id:
798773
ClinVar RCV Id:
RCV000982336
dbSNP Id:
rs104894932
ExAC:
X:18665421 C / T
gnomAD v2:
X-18665421-C-T
gnomAD v3:
X-18647301-C-T
gnomAD v4:
X-18647301-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.18647301C>T , CM000685.2:g.18647301C>T | GRCh38 |
| NC_000023.10:g.18665421C>T , CM000685.1:g.18665421C>T | GRCh37 |
| NC_000023.9:g.18575342C>T | NCBI36 |
| NG_008475.1:g.226697C>T | |
| NG_008659.3:g.35148G>A , LRG_702:g.35148G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379984.4:c.216G>A (RS1) MANE Select | ENSP00000369320.3:p.Glu72= | |
| ENST00000379984.3:c.216G>A (RS1) | ENSP00000369320.3:p.Glu72= | |
| ENST00000379989.6:c.2797+1211C>T (CDKL5) | ENSP00000369325.3:n.2797+1211C>T | |
| ENST00000379996.7:c.2797+1211C>T (CDKL5) | ENSP00000369332.3:n.2797+1211C>T | |
| ENST00000476595.1:n.707G>A (RS1) | ||
| NM_000330.3:c.216G>A , LRG_702t1:c.216G>A (RS1) | NP_000321.1:p.Glu72= | |
| NM_001037343.1:c.2797+1211C>T (CDKL5) | NP_001032420.1:n.2797+1211C>T | |
| NM_003159.2:c.2797+1211C>T (CDKL5) | NP_003150.1:n.2797+1211C>T | |
| XM_011545569.1:c.2869+1211C>T (CDKL5) | XP_011543871.1:n.2869+1211C>T | |
| XM_011545570.1:c.2788+1211C>T (CDKL5) | XP_011543872.1:n.2788+1211C>T | |
| XR_950484.1:n.3172+1211C>T (CDKL5) | ||
| NM_000330.4:c.216G>A (RS1) MANE Select | NP_000321.1:p.Glu72= | |
| NM_001037343.2:c.2797+1211C>T (CDKL5) | NP_001032420.1:n.2797+1211C>T | |
| NM_003159.3:c.2797+1211C>T (CDKL5) | NP_003150.1:n.2797+1211C>T |