Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.49625681T>A , CM000676.2:g.49625681T>A | GRCh38 |
| NC_000014.8:g.50092399T>A , CM000676.1:g.50092399T>A | GRCh37 |
| NC_000014.7:g.49162149T>A | NCBI36 |
| NG_013070.1:g.14550A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018139.3:c.2375A>T MANE Select | NP_060609.2:p.Lys792Ile |
| ENST00000298292.13:c.2375A>T MANE Select | ENSP00000298292.8:p.Lys792Ile |
| NM_001083908.1:c.2231A>T | NP_001077377.1:p.Lys744Ile |
| NM_001083908.2:c.2231A>T | NP_001077377.1:p.Lys744Ile |
| NM_001378453.1:c.164A>T | NP_001365382.1:p.Lys55Ile |
| NM_018139.2:c.2375A>T | NP_060609.2:p.Lys792Ile |
| ENST00000298292.12:c.2375A>T | ENSP00000298292.8:p.Lys792Ile |
| ENST00000406043.3:c.2231A>T | ENSP00000384862.3:p.Lys744Ile |