Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.18657650G>T , CM000685.2:g.18657650G>T | GRCh38 |
| NC_000023.10:g.18675770G>T , CM000685.1:g.18675770G>T | GRCh37 |
| NC_000023.9:g.18585691G>T | NCBI36 |
| NG_008659.3:g.24799C>A , LRG_702:g.24799C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000330.4:c.68C>A (RS1) MANE Select | NP_000321.1:p.Ser23Ter |
| ENST00000379984.4:c.68C>A (RS1) MANE Select | ENSP00000369320.3:p.Ser23Ter |
| NM_000330.3:c.68C>A , LRG_702t1:c.68C>A (RS1) | NP_000321.1:p.Ser23Ter |
| ENST00000379984.3:c.68C>A (RS1) | ENSP00000369320.3:p.Ser23Ter |
| XR_950484.1:n.3561-3114G>T (CDKL5) |