Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.36260053G>T , CM000680.2:g.36260053G>T | GRCh38 |
| NC_000018.9:g.33840016G>T , CM000680.1:g.33840016G>T | GRCh37 |
| NC_000018.8:g.32094014G>T | NCBI36 |
| NG_053177.1:g.77844G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017947.4:c.2287G>T MANE Select | NP_060417.4:p.Glu763Ter |
| ENST00000261326.6:c.2287G>T MANE Select | ENSP00000261326.4:p.Glu763Ter |
| NM_017947.2:c.2287G>T | NP_060417.2:p.Glu763Ter |
| NM_017947.3:c.2287G>T | NP_060417.3:p.Glu763Ter |
| ENST00000261326.5:c.2287G>T | ENSP00000261326.4:p.Glu763Ter |
| ENST00000588132.1:n.244G>T |