Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31270056T= , CM000668.2:g.31270056T= | GRCh38 |
| NC_000006.11:g.31237833T= , CM000668.1:g.31237833T= | GRCh37 |
| NC_000006.10:g.31345812T= | NCBI36 |
| NG_029422.2:g.7076A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002117.6:c.925A= MANE Select | NP_002108.4:p.Met309= |
| ENST00000376228.10:c.925A= MANE Select | ENSP00000365402.5:p.Met309= |
| NM_002117.5:c.925A= | NP_002108.4:p.Met309= |
| ENST00000376228.9:c.925A= | ENSP00000365402.5:p.Met309= |
| ENST00000376237.8:c.*512A= | ENSP00000365412.4:n.*512A= |
| ENST00000383329.7:c.925A= | ENSP00000372819.3:p.Met309= |
| ENST00000470363.5:n.243A= | |
| ENST00000487245.5:n.1284A= |