Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.1792059C>T , CM000674.2:g.1792059C>T | GRCh38 |
| NC_000012.11:g.1901225C>T , CM000674.1:g.1901225C>T | GRCh37 |
| NC_000012.10:g.1771486C>T | NCBI36 |
| NG_012663.1:g.131646G>A | |
| NG_012663.2:g.131646G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_172364.5:c.*1596G>A MANE Select | NP_758952.4:n.*1596G>A |
| ENST00000382722.10:c.*1596G>A MANE Select | ENSP00000372169.4:n.*1596G>A |
| NM_172364.4:c.*1596G>A | NP_758952.4:n.*1596G>A |
| ENST00000280663.12:n.5840G>A | |
| ENST00000382722.9:c.*1596G>A | ENSP00000372169.4:n.*1596G>A |
| ENST00000537784.5:c.2780G>A |