Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.33675490A= , CM000682.2:g.33675490A= | GRCh38 |
| NC_000020.10:g.32263296A= , CM000682.1:g.32263296A= | GRCh37 |
| NC_000020.9:g.31726957A= | NCBI36 |
| NG_046988.1:g.15915T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343380.6:c.*1242T= MANE Select | ENSP00000345571.5:n.*1242T= | |
| NM_005225.2:c.*1242T= | NP_005216.1:n.*1242T= | |
| NM_005225.3:c.*1242T= MANE Select | NP_005216.1:n.*1242T= |