Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133539094A= , CM000672.2:g.133539094A= | GRCh38 |
| NC_000010.10:g.135352598A= , CM000672.1:g.135352598A= | GRCh37 |
| NC_000010.9:g.135202588A= | NCBI36 |
| NG_008383.1:g.16732A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252945.8:c.*130A= MANE Select | ENSP00000252945.3:n.*130A= | |
| ENST00000252945.7:c.*130A= | ENSP00000252945.3:n.*130A= | |
| ENST00000368520.1:n.1358+1202A= | ||
| ENST00000463117.6:c.*130A= | ENSP00000440689.1:n.*130A= | |
| ENST00000469258.1:n.708A= | ||
| NM_000773.3:c.*130A= | NP_000764.1:n.*130A= | |
| NM_000773.4:c.*130A= MANE Select | NP_000764.1:n.*130A= |