Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31268926T= , CM000668.2:g.31268926T= | GRCh38 |
| NC_000006.11:g.31236703T= , CM000668.1:g.31236703T= | GRCh37 |
| NC_000006.10:g.31344682T= | NCBI36 |
| NG_029422.2:g.8206A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.*243A= MANE Select | ENSP00000365402.5:n.*243A= | |
| ENST00000376228.9:c.*243A= | ENSP00000365402.5:n.*243A= | |
| ENST00000376237.8:c.*931A= | ENSP00000365412.4:n.*931A= | |
| ENST00000383329.7:c.*243A= | ENSP00000372819.3:n.*243A= | |
| ENST00000466892.5:n.577A= | ||
| ENST00000470363.5:n.1102A= | ||
| ENST00000487245.5:n.1703A= | ||
| NM_002117.5:c.*243A= | NP_002108.4:n.*243A= | |
| NM_002117.6:c.*243A= MANE Select | NP_002108.4:n.*243A= |