| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.92648299A>G , CM000672.2:g.92648299A>G | GRCh38 |
| NC_000010.10:g.94408056A>G , CM000672.1:g.94408056A>G | GRCh37 |
| NC_000010.9:g.94398036A>G | NCBI36 |
| NG_032580.1:g.60232A>G |
| HGVS | Amino-acid Change |
|---|---|
| NM_004523.4:c.2635A>G MANE Select | NP_004514.2:p.Ile879Val |
| ENST00000260731.5:c.2635A>G MANE Select | ENSP00000260731.3:p.Ile879Val |
| NM_004523.3:c.2635A>G | NP_004514.2:p.Ile879Val |
| ENST00000260731.4:c.2635A>G | ENSP00000260731.3:p.Ile879Val |
| ENST00000676621.1:c.*1153A>G | ENSP00000503639.1:n.*1153A>G |
| ENST00000676647.1:c.2428A>G | ENSP00000503394.1:p.Ile810Val |
| ENST00000676757.1:c.2428A>G | ENSP00000504289.1:p.Ile810Val |
| ENST00000677720.1:c.*609A>G | ENSP00000504840.1:n.*609A>G |