Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.36268545A>G , CM000680.2:g.36268545A>G | GRCh38 |
| NC_000018.9:g.33848508A>G , CM000680.1:g.33848508A>G | GRCh37 |
| NC_000018.8:g.32102506A>G | NCBI36 |
| NG_053177.1:g.86336A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017947.4:c.2527A>G MANE Select | NP_060417.4:p.Met843Val |
| ENST00000261326.6:c.2527A>G MANE Select | ENSP00000261326.4:p.Met843Val |
| NM_017947.2:c.2527A>G | NP_060417.2:p.Met843Val |
| NM_017947.3:c.2527A>G | NP_060417.3:p.Met843Val |
| ENST00000261326.5:c.2527A>G | ENSP00000261326.4:p.Met843Val |