Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40471924T>A , CM000677.2:g.40471924T>A | GRCh38 |
| NC_000015.9:g.40764123T>A , CM000677.1:g.40764123T>A | GRCh37 |
| NC_000015.8:g.38551415T>A | NCBI36 |
| NG_017074.1:g.5964T>A , LRG_600:g.5964T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_130468.4:c.711T>A MANE Select | NP_569735.1:p.Tyr237Ter |
| ENST00000306243.7:c.711T>A MANE Select | ENSP00000307297.6:p.Tyr237Ter |
| NM_130468.3:c.711T>A , LRG_600t1:c.711T>A | NP_569735.1:p.Tyr237Ter |
| ENST00000306243.6:c.711T>A | ENSP00000307297.5:p.Tyr237Ter |
| ENST00000559991.1:c.636T>A | ENSP00000453882.1:p.Tyr212Ter |