Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26728236G>A , CM000664.2:g.26728236G>A | GRCh38 |
| NC_000002.11:g.26951104G>A , CM000664.1:g.26951104G>A | GRCh37 |
| NC_000002.10:g.26804608G>A | NCBI36 |
| NG_033884.1:g.40524G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302909.4:c.853G>A MANE Select | ENSP00000306275.3:p.Ala285Thr | |
| ENST00000302909.3:c.853G>A | ENSP00000306275.3:p.Ala285Thr | |
| ENST00000620977.1:c.484G>A | ENSP00000483136.1:p.Ala162Thr | |
| NM_002246.2:c.853G>A | NP_002237.1:p.Ala285Thr | |
| XM_005264293.1:c.523G>A | XP_005264350.1:p.Ala175Thr | |
| XM_005264293.2:c.523G>A | XP_005264350.1:p.Ala175Thr | |
| NM_002246.3:c.853G>A MANE Select | NP_002237.1:p.Ala285Thr |