Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27523329C>T , CM000664.2:g.27523329C>T | GRCh38 |
| NC_000002.11:g.27746196C>T , CM000664.1:g.27746196C>T | GRCh37 |
| NC_000002.10:g.27599700C>T | NCBI36 |
| NG_028024.1:g.31491C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001486.4:c.1768C>T MANE Select | NP_001477.2:p.His590Tyr |
| ENST00000264717.7:c.1768C>T MANE Select | ENSP00000264717.2:p.His590Tyr |
| NM_001486.3:c.1768C>T | NP_001477.2:p.His590Tyr |
| ENST00000264717.6:c.1768C>T | ENSP00000264717.2:p.His590Tyr |
| XM_011532761.1:c.1615C>T | XP_011531063.1:p.His539Tyr |
| XM_011532762.1:c.1198C>T | XP_011531064.1:p.His400Tyr |
| XM_017003796.1:c.1198C>T | XP_016859285.1:p.His400Tyr |
| XM_017003797.1:c.1198C>T | XP_016859286.1:p.His400Tyr |