Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.69247586C>T , CM000672.2:g.69247586C>T | GRCh38 |
| NC_000010.10:g.71007342C>T , CM000672.1:g.71007342C>T | GRCh37 |
| NC_000010.9:g.70677348C>T | NCBI36 |
| NG_051555.1:g.32284C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_025130.4:c.1258C>T MANE Select | NP_079406.4:p.His420Tyr |
| ENST00000354624.6:c.1258C>T MANE Select | ENSP00000346643.5:p.His420Tyr |
| NM_025130.3:c.1258C>T | NP_079406.3:p.His420Tyr |
| ENST00000354624.5:c.1258C>T | ENSP00000346643.5:p.His420Tyr |
| ENST00000488706.1:n.77C>T | |
| XM_011540195.1:c.1258C>T | XP_011538497.1:p.His420Tyr |
| XM_011540195.2:c.1258C>T | XP_011538497.1:p.His420Tyr |
| XR_001747209.1:n.1391C>T | |
| XR_945818.1:n.1391C>T |