Identifiers and link-outs to other resources
ClinVar Variation Id:
372497
ClinVar RCV Id:
RCV000413709
dbSNP Id:
rs1057517816
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.18642011C>T , CM000685.2:g.18642011C>T | GRCh38 |
| NC_000023.10:g.18660131C>T , CM000685.1:g.18660131C>T | GRCh37 |
| NC_000023.9:g.18570052C>T | NCBI36 |
| NG_008475.1:g.221407C>T | |
| NG_008659.3:g.40438G>A , LRG_702:g.40438G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NM_000330.3:c.668G>A , LRG_702t1:c.668G>A (RS1) | NP_000321.1:p.Cys223Tyr | |
| NM_001037343.1:c.2714-3996C>T (CDKL5) VV | NP_001032420.1:p.= | |
| NM_003159.2:c.2714-3996C>T (CDKL5) VV | NP_003150.1:p.= | |
| XM_011545569.1:c.2786-3996C>T (CDKL5) | XP_011543871.1:p.= | |
| XM_011545570.1:c.2705-3996C>T (CDKL5) | XP_011543872.1:p.= | |
| XR_950484.1:n.3089-3996C>T (CDKL5) | ||
| ENST00000379984.3:c.668G>A | ENSP00000369320.3:p.Cys223Tyr | |
| ENST00000379989.6:c.2714-3996C>T | ENSP00000369325.3:p.= | |
| ENST00000379996.7:c.2714-3996C>T | ENSP00000369332.3:p.= | |
| ENST00000476595.1:n.1159G>A |