Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.12887027T>C , CM000685.2:g.12887027T>C | GRCh38 |
| NC_000023.10:g.12905146T>C , CM000685.1:g.12905146T>C | GRCh37 |
| NC_000023.9:g.12815067T>C | NCBI36 |
| NG_012569.1:g.24945T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_016562.4:c.1519T>C MANE Select | NP_057646.1:p.Phe507Leu |
| ENST00000380659.4:c.1519T>C MANE Select | ENSP00000370034.3:p.Phe507Leu |
| NM_016562.3:c.1519T>C | NP_057646.1:p.Phe507Leu |
| ENST00000380659.3:c.1519T>C | ENSP00000370034.3:p.Phe507Leu |