Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56982210G>A , CM000678.2:g.56982210G>A | GRCh38 |
| NC_000016.9:g.57016122G>A , CM000678.1:g.57016122G>A | GRCh37 |
| NC_000016.8:g.55573623G>A | NCBI36 |
| NG_008952.1:g.25288G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000078.3:c.1294G>A MANE Select | NP_000069.2:p.Ala432Thr |
| ENST00000200676.8:c.1294G>A MANE Select | ENSP00000200676.3:p.Ala432Thr |
| NM_000078.2:c.1294G>A | NP_000069.2:p.Ala432Thr |
| NM_001286085.1:c.1114G>A | NP_001273014.1:p.Ala372Thr |
| NM_001286085.2:c.1114G>A | NP_001273014.1:p.Ala372Thr |
| ENST00000200676.7:c.1294G>A | ENSP00000200676.3:p.Ala432Thr |
| ENST00000379780.6:c.1114G>A | ENSP00000369106.2:p.Ala372Thr |
| ENST00000566128.1:c.1099G>A | ENSP00000456276.1:p.Ala367Thr |
| ENST00000650358.1:n.1692G>A |