Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.47349663A>G , CM000672.2:g.47349663A>G | GRCh38 |
| NC_000010.10:g.48389699T>C , CM000672.1:g.48389699T>C | GRCh37 |
| NC_000010.9:g.48009705T>C | NCBI36 |
| NG_029718.1:g.6293A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002900.3:c.1179A>G MANE Select | NP_002891.1:p.Thr393= |
| ENST00000584701.2:c.1179A>G MANE Select | ENSP00000463151.1:p.Thr393= |
| NM_002900.2:c.1179A>G | NP_002891.1:p.Thr393= |
| ENST00000584701.1:c.1179A>G | ENSP00000463151.1:p.Thr393= |