Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.45036070C>T , CM000674.2:g.45036070C>T | GRCh38 |
| NC_000012.11:g.45429853C>T , CM000674.1:g.45429853C>T | GRCh37 |
| NC_000012.10:g.43716120C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001004329.3:c.448G>A MANE Select | NP_001004329.2:p.Ala150Thr |
| ENST00000332700.6:c.448G>A MANE Select | ENSP00000331470.6:p.Ala150Thr |
| NM_001004329.2:c.448G>A | NP_001004329.2:p.Ala150Thr |
| XR_944885.1:n.112+825C>T | |
| XR_944885.2:n.203+825C>T |