Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102842889T>A , CM000673.2:g.102842889T>A | GRCh38 |
| NC_000011.9:g.102713620T>A , CM000673.1:g.102713620T>A | GRCh37 |
| NC_000011.8:g.102218830T>A | NCBI36 |
| NG_012100.1:g.5723A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002422.5:c.133A>T MANE Select | NP_002413.1:p.Lys45Ter |
| ENST00000299855.10:c.133A>T MANE Select | ENSP00000299855.5:p.Lys45Ter |
| NM_002422.3:c.133A>T | NP_002413.1:p.Lys45Ter |
| NM_002422.4:c.133A>T | NP_002413.1:p.Lys45Ter |
| ENST00000299855.9:c.133A>T | ENSP00000299855.5:p.Lys45Ter |
| ENST00000524478.1:c.104A>T | ENSP00000435255.1:p.Gln35Leu |