Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42536414T= , CM000679.2:g.42536414T= | GRCh38 |
| NC_000017.10:g.40688432T= , CM000679.1:g.40688432T= | GRCh37 |
| NC_000017.9:g.37941958T= | NCBI36 |
| NG_011552.1:g.5482T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000263.4:c.142T= MANE Select | NP_000254.2:p.Phe48= |
| ENST00000225927.7:c.142T= MANE Select | ENSP00000225927.1:p.Phe48= |
| NM_000263.3:c.142T= | NP_000254.2:p.Phe48= |
| ENST00000225927.6:c.142T= | ENSP00000225927.1:p.Phe48= |
| XM_024450771.1:c.142T= | XP_024306539.1:p.Phe48= |