Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154969471A= , CM000685.2:g.154969471A= | GRCh38 |
| NC_000023.10:g.154197746A= , CM000685.1:g.154197746A= | GRCh37 |
| NC_000023.9:g.153850940A= | NCBI36 |
| NG_011403.1:g.58253T= | |
| NG_011403.2:g.58253T= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360256.9:c.869T= MANE Select | ENSP00000353393.4:p.Leu290= | |
| ENST00000647125.1:c.*745T= | ENSP00000496062.1:n.*745T= | |
| ENST00000360256.8:c.869T= | ENSP00000353393.4:p.Leu290= | |
| NM_000132.3:c.869T= | NP_000123.1:p.Leu290= | |
| XM_011531126.1:c.764T= | XP_011529428.1:p.Leu255= | |
| NM_000132.4:c.869T= MANE Select | NP_000123.1:p.Leu290= |