Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.12887029T>A , CM000685.2:g.12887029T>A | GRCh38 |
| NC_000023.10:g.12905148T>A , CM000685.1:g.12905148T>A | GRCh37 |
| NC_000023.9:g.12815069T>A | NCBI36 |
| NG_012569.1:g.24947T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_016562.4:c.1521T>A MANE Select | NP_057646.1:p.Phe507Leu |
| ENST00000380659.4:c.1521T>A MANE Select | ENSP00000370034.3:p.Phe507Leu |
| NM_016562.3:c.1521T>A | NP_057646.1:p.Phe507Leu |
| ENST00000380659.3:c.1521T>A | ENSP00000370034.3:p.Phe507Leu |