Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27518920G>A , CM000664.2:g.27518920G>A | GRCh38 |
| NC_000002.11:g.27741787G>A , CM000664.1:g.27741787G>A | GRCh37 |
| NC_000002.10:g.27595291G>A | NCBI36 |
| NG_028024.1:g.27082G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264717.7:c.1555G>A MANE Select | ENSP00000264717.2:p.Ala519Thr | |
| ENST00000264717.6:c.1555G>A | ENSP00000264717.2:p.Ala519Thr | |
| NM_001486.3:c.1555G>A | NP_001477.2:p.Ala519Thr | |
| XM_011532761.1:c.1402G>A | XP_011531063.1:p.Ala468Thr | |
| XM_011532762.1:c.985G>A | XP_011531064.1:p.Ala329Thr | |
| XM_017003796.1:c.985G>A | XP_016859285.1:p.Ala329Thr | |
| XM_017003797.1:c.985G>A | XP_016859286.1:p.Ala329Thr | |
| NM_001486.4:c.1555G>A MANE Select | NP_001477.2:p.Ala519Thr |