Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.12097780T>G , CM000672.2:g.12097780T>G | GRCh38 |
| NC_000010.10:g.12139779T>G , CM000672.1:g.12139779T>G | GRCh37 |
| NC_000010.9:g.12179785T>G | NCBI36 |
| NG_033248.1:g.33864T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018706.7:c.1455T>G MANE Select | NP_061176.4:p.Tyr485Ter |
| ENST00000263035.9:c.1455T>G MANE Select | ENSP00000263035.4:p.Tyr485Ter |
| NM_018706.6:c.1455T>G | NP_061176.3:p.Tyr485Ter |
| ENST00000263035.8:c.1455T>G | ENSP00000263035.4:p.Tyr485Ter |
| ENST00000448829.1:c.109T>G | |
| ENST00000465617.1:n.595T>G |