Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.285554C>T , CM000674.2:g.285554C>T | GRCh38 |
| NC_000012.11:g.394720C>T , CM000674.1:g.394720C>T | GRCh37 |
| NC_000012.10:g.264981C>T | NCBI36 |
| NG_046993.1:g.108902G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001042603.3:c.4975G>A MANE Select | NP_001036068.1:p.Ala1659Thr |
| ENST00000399788.7:c.4975G>A MANE Select | ENSP00000382688.2:p.Ala1659Thr |
| NM_001042603.2:c.4975G>A | NP_001036068.1:p.Ala1659Thr |
| ENST00000382815.8:c.5071G>A | ENSP00000372265.5:p.Ala1691Thr |
| ENST00000399788.6:c.4975G>A | ENSP00000382688.2:p.Ala1659Thr |
| ENST00000540838.1:n.358G>A |