Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.60371400A= , CM000680.2:g.60371400A= | GRCh38 |
| NC_000018.9:g.58038633A= , CM000680.1:g.58038633A= | GRCh37 |
| NC_000018.8:g.56189613A= | NCBI36 |
| NG_016441.1:g.6369T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299766.5:c.950T= MANE Select | ENSP00000299766.3:p.Ile317= | |
| ENST00000299766.4:c.950T= | ENSP00000299766.3:p.Ile317= | |
| NM_005912.2:c.950T= | NP_005903.2:p.Ile317= | |
| NM_005912.3:c.950T= MANE Select | NP_005903.2:p.Ile317= |