Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.12097711T>G , CM000672.2:g.12097711T>G | GRCh38 |
| NC_000010.10:g.12139710T>G , CM000672.1:g.12139710T>G | GRCh37 |
| NC_000010.9:g.12179716T>G | NCBI36 |
| NG_033248.1:g.33795T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018706.7:c.1386T>G MANE Select | NP_061176.4:p.Tyr462Ter |
| ENST00000263035.9:c.1386T>G MANE Select | ENSP00000263035.4:p.Tyr462Ter |
| NM_018706.6:c.1386T>G | NP_061176.3:p.Tyr462Ter |
| ENST00000263035.8:c.1386T>G | ENSP00000263035.4:p.Tyr462Ter |
| ENST00000448829.1:c.40T>G | |
| ENST00000465617.1:n.526T>G |