Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.71030643A= , CM000666.2:g.71030643A= | GRCh38 |
| NC_000004.11:g.71896360A= , CM000666.1:g.71896360A= | GRCh37 |
| NC_000004.10:g.72115224A= | NCBI36 |
| NG_023303.1:g.42096A= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000286648.10:c.*1265A= MANE Select | ENSP00000286648.5:n.*1265A= | |
| ENST00000286648.9:c.*1265A= | ENSP00000286648.5:n.*1265A= | |
| ENST00000503359.5:c.*1992A= | ENSP00000426389.1:n.*1992A= | |
| ENST00000504730.5:c.*1332A= | ENSP00000425578.1:n.*1332A= | |
| ENST00000504952.1:c.*1191A= | ENSP00000421508.1:n.*1191A= | |
| NM_000788.2:c.*1265A= | NP_000779.1:n.*1265A= | |
| NM_000788.3:c.*1265A= MANE Select | NP_000779.1:n.*1265A= |