Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74750143C= , CM000677.2:g.74750143C= | GRCh38 |
| NC_000015.9:g.75042484C= , CM000677.1:g.75042484C= | GRCh37 |
| NC_000015.8:g.72829537C= | NCBI36 |
| NG_008431.1:g.32602C= | |
| NG_008431.2:g.32602C= | |
| NG_061543.1:g.6299C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343932.5:c.405C= MANE Select | ENSP00000342007.4:p.Ala135= | |
| ENST00000343932.4:c.405C= | ENSP00000342007.4:p.Ala135= | |
| NM_000761.4:c.405C= | NP_000752.2:p.Ala135= | |
| NM_000761.5:c.405C= MANE Select | NP_000752.2:p.Ala135= |