Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74749769G= , CM000677.2:g.74749769G= | GRCh38 |
| NC_000015.9:g.75042110G= , CM000677.1:g.75042110G= | GRCh37 |
| NC_000015.8:g.72829163G= | NCBI36 |
| NG_008431.1:g.32228G= | |
| NG_008431.2:g.32228G= | |
| NG_061543.1:g.5925G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000343932.5:c.31G= MANE Select | ENSP00000342007.4:p.Ala11= | |
| ENST00000343932.4:c.31G= | ENSP00000342007.4:p.Ala11= | |
| NM_000761.4:c.31G= | NP_000752.2:p.Ala11= | |
| NM_000761.5:c.31G= MANE Select | NP_000752.2:p.Ala11= |