Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.130209734G>T , CM000673.2:g.130209734G>T | GRCh38 |
| NC_000011.9:g.130079629G>T , CM000673.1:g.130079629G>T | GRCh37 |
| NC_000011.8:g.129584839G>T | NCBI36 |
| NG_012132.1:g.54948G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000278742.6:c.2479G>T MANE Select | ENSP00000278742.5:p.Gly827Ter | |
| ENST00000278742.5:c.2479G>T | ENSP00000278742.5:p.Gly827Ter | |
| NM_021978.3:c.2479G>T | NP_068813.1:p.Gly827Ter | |
| NM_021978.4:c.2479G>T MANE Select | NP_068813.1:p.Gly827Ter |