Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.18657639C>T , CM000685.2:g.18657639C>T | GRCh38 |
| NC_000023.10:g.18675759C>T , CM000685.1:g.18675759C>T | GRCh37 |
| NC_000023.9:g.18585680C>T | NCBI36 |
| NG_008659.3:g.24810G>A , LRG_702:g.24810G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000330.4:c.78+1G>A (RS1) MANE Select | NP_000321.1:n.78+1G>A |
| ENST00000379984.4:c.78+1G>A (RS1) MANE Select | ENSP00000369320.3:n.78+1G>A |
| NM_000330.3:c.78+1G>A , LRG_702t1:c.78+1G>A (RS1) | NP_000321.1:n.78+1G>A |
| ENST00000379984.3:c.78+1G>A (RS1) | ENSP00000369320.3:n.78+1G>A |
| XR_950484.1:n.3561-3125C>T (CDKL5) |