Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.18656651A>G , CM000685.2:g.18656651A>G | GRCh38 |
| NC_000023.10:g.18674771A>G , CM000685.1:g.18674771A>G | GRCh37 |
| NC_000023.9:g.18584692A>G | NCBI36 |
| NG_008659.3:g.25798T>C , LRG_702:g.25798T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000330.4:c.184+2T>C (RS1) MANE Select | NP_000321.1:n.184+2T>C |
| ENST00000379984.4:c.184+2T>C (RS1) MANE Select | ENSP00000369320.3:n.184+2T>C |
| NM_000330.3:c.184+2T>C , LRG_702t1:c.184+2T>C (RS1) | NP_000321.1:n.184+2T>C |
| ENST00000379984.3:c.184+2T>C (RS1) | ENSP00000369320.3:n.184+2T>C |
| XR_950484.1:n.3560+3015A>G (CDKL5) |