Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.22123994C>A , CM000663.2:g.22123994C>A | GRCh38 |
| NC_000001.10:g.22450487C>A , CM000663.1:g.22450487C>A | GRCh37 |
| NC_000001.9:g.22323074C>A | NCBI36 |
| NG_008974.1:g.24033G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_030761.5:c.314-2418G>T MANE Select | NP_110388.2:n.314-2418G>T |
| ENST00000290167.11:c.314-2418G>T MANE Select | ENSP00000290167.5:n.314-2418G>T |
| NM_030761.4:c.314-2418G>T | NP_110388.2:n.314-2418G>T |
| ENST00000290167.10:c.314-2418G>T | ENSP00000290167.5:n.314-2418G>T |
| XM_011541597.1:c.380-2418G>T | XP_011539899.1:n.380-2418G>T |
| XM_011541597.2:c.380-2418G>T | XP_011539899.1:n.380-2418G>T |
| XM_011541598.1:c.149-2418G>T | XP_011539900.1:n.149-2418G>T |
| XM_011541598.2:c.149-2418G>T | XP_011539900.1:n.149-2418G>T |