Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.133303309G>A , CM000685.2:g.133303309G>A | GRCh38 |
| NC_000023.10:g.132437337G>A , CM000685.1:g.132437337G>A | GRCh37 |
| NC_000023.9:g.132265003G>A | NCBI36 |
| NG_012498.1:g.116869C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001448.3:c.1325C>T MANE Select | NP_001439.2:p.Ala442Val |
| ENST00000370828.4:c.1325C>T MANE Select | ENSP00000359864.3:p.Ala442Val |
| NM_001448.2:c.1325C>T | NP_001439.2:p.Ala442Val |
| ENST00000370828.3:c.1325C>T | ENSP00000359864.3:p.Ala442Val |