Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.60371756G= , CM000680.2:g.60371756G= | GRCh38 |
| NC_000018.9:g.58038989G= , CM000680.1:g.58038989G= | GRCh37 |
| NC_000018.8:g.56189969G= | NCBI36 |
| NG_016441.1:g.6013C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299766.5:c.594C= MANE Select | ENSP00000299766.3:p.Ile198= | |
| ENST00000299766.4:c.594C= | ENSP00000299766.3:p.Ile198= | |
| NM_005912.2:c.594C= | NP_005903.2:p.Ile198= | |
| NM_005912.3:c.594C= MANE Select | NP_005903.2:p.Ile198= |