Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.28848434A= , CM000663.2:g.28848434A= | GRCh38 |
| NC_000001.10:g.29174946A= , CM000663.1:g.29174946A= | GRCh37 |
| NC_000001.9:g.29047533A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000911.4:c.228-10520A= MANE Select | NP_000902.3:n.228-10520A= |
| ENST00000234961.7:c.228-10520A= MANE Select | ENSP00000234961.2:n.228-10520A= |
| NM_000911.3:c.228-10520A= | NP_000902.3:n.228-10520A= |
| ENST00000234961.6:c.228-10520A= | ENSP00000234961.2:n.228-10520A= |
| ENST00000621425.1:c.228-10520A= | ENSP00000477970.1:n.228-10520A= |