Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.35577339T>A , CM000679.2:g.35577339T>A | GRCh38 |
| NC_000017.10:g.33904358T>A , CM000679.1:g.33904358T>A | GRCh37 |
| NC_000017.9:g.30928471T>A | NCBI36 |
| NG_008447.1:g.6299A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000286.3:c.379A>T MANE Select | NP_000277.1:p.Lys127Ter |
| ENST00000225873.9:c.379A>T MANE Select | ENSP00000225873.3:p.Lys127Ter |
| NM_000286.2:c.379A>T | NP_000277.1:p.Lys127Ter |
| ENST00000225873.8:c.379A>T | ENSP00000225873.3:p.Lys127Ter |
| ENST00000585380.1:c.379A>T | ENSP00000466280.1:p.Lys127Ter |
| ENST00000586663.1:c.379A>T | ENSP00000466894.1:p.Lys127Ter |
| ENST00000586663.2:c.379A>T | ENSP00000466894.2:p.Lys127Ter |
| ENST00000613219.4:c.379A>T | ENSP00000482609.1:p.Lys127Ter |