Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.18656637G>T , CM000685.2:g.18656637G>T | GRCh38 |
| NC_000023.10:g.18674757G>T , CM000685.1:g.18674757G>T | GRCh37 |
| NC_000023.9:g.18584678G>T | NCBI36 |
| NG_008659.3:g.25812C>A , LRG_702:g.25812C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000330.4:c.184+16C>A (RS1) MANE Select | NP_000321.1:n.184+16C>A |
| ENST00000379984.4:c.184+16C>A (RS1) MANE Select | ENSP00000369320.3:n.184+16C>A |
| NM_000330.3:c.184+16C>A , LRG_702t1:c.184+16C>A (RS1) | NP_000321.1:n.184+16C>A |
| ENST00000379984.3:c.184+16C>A (RS1) | ENSP00000369320.3:n.184+16C>A |
| XR_950484.1:n.3560+3001G>T (CDKL5) |