Linked Data
ClinVar Variation Id:
156695
dbSNP Id:
rs587783162
ExAC:
X:18671579 T / C
gnomAD v2:
X-18671579-T-C
gnomAD v3:
X-18653459-T-C
gnomAD v4:
X-18653459-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.18653459T>C , CM000685.2:g.18653459T>C | GRCh38 |
| NC_000023.10:g.18671579T>C , CM000685.1:g.18671579T>C | GRCh37 |
| NC_000023.9:g.18581500T>C | NCBI36 |
| NG_008475.1:g.232855T>C | |
| NG_008659.3:g.28990A>G , LRG_702:g.28990A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379984.4:c.184+3194A>G (RS1) MANE Select | ENSP00000369320.3:n.184+3194A>G | |
| ENST00000673617.1:n.280T>C (CDKL5) | ||
| ENST00000379984.3:c.184+3194A>G (RS1) | ENSP00000369320.3:n.184+3194A>G | |
| ENST00000379989.6:c.3008T>C (CDKL5) | ENSP00000369325.3:p.Met1003Thr | |
| ENST00000379996.7:c.3008T>C (CDKL5) | ENSP00000369332.3:p.Met1003Thr | |
| NM_000330.3:c.184+3194A>G , LRG_702t1:c.184+3194A>G (RS1) | NP_000321.1:n.184+3194A>G | |
| NM_001037343.1:c.3008T>C (CDKL5) | NP_001032420.1:p.Met1003Thr | |
| NM_003159.2:c.3008T>C (CDKL5) | NP_003150.1:p.Met1003Thr | |
| XM_011545569.1:c.3080T>C (CDKL5) | XP_011543871.1:p.Met1027Thr | |
| XM_011545570.1:c.2999T>C (CDKL5) | XP_011543872.1:p.Met1000Thr | |
| XR_950484.1:n.3383T>C (CDKL5) | ||
| NM_000330.4:c.184+3194A>G (RS1) MANE Select | NP_000321.1:n.184+3194A>G | |
| NM_001037343.2:c.3008T>C (CDKL5) | NP_001032420.1:p.Met1003Thr | |
| NM_003159.3:c.3008T>C (CDKL5) | NP_003150.1:p.Met1003Thr |