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