Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74751854G= , CM000677.2:g.74751854G= | GRCh38 |
| NC_000015.9:g.75044195G= , CM000677.1:g.75044195G= | GRCh37 |
| NC_000015.8:g.72831248G= | NCBI36 |
| NG_008431.1:g.34313G= | |
| NG_008431.2:g.34313G= | |
| NG_061543.1:g.8010G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000761.5:c.1042G= MANE Select | NP_000752.2:p.Asp348= |
| ENST00000343932.5:c.1042G= MANE Select | ENSP00000342007.4:p.Asp348= |
| NM_000761.4:c.1042G= | NP_000752.2:p.Asp348= |
| ENST00000343932.4:c.1042G= | ENSP00000342007.4:p.Asp348= |