Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.92645569G>T , CM000672.2:g.92645569G>T | GRCh38 |
| NC_000010.10:g.94405326G>T , CM000672.1:g.94405326G>T | GRCh37 |
| NC_000010.9:g.94395306G>T | NCBI36 |
| NG_032580.1:g.57502G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260731.5:c.2474G>T MANE Select | ENSP00000260731.3:p.Arg825Ile | |
| ENST00000676621.1:c.*992G>T | ENSP00000503639.1:n.*992G>T | |
| ENST00000676647.1:c.2267G>T | ENSP00000503394.1:p.Arg756Ile | |
| ENST00000676757.1:c.2267G>T | ENSP00000504289.1:p.Arg756Ile | |
| ENST00000677720.1:c.*448G>T | ENSP00000504840.1:n.*448G>T | |
| ENST00000260731.4:c.2474G>T | ENSP00000260731.3:p.Arg825Ile | |
| NM_004523.3:c.2474G>T | NP_004514.2:p.Arg825Ile | |
| NM_004523.4:c.2474G>T MANE Select | NP_004514.2:p.Arg825Ile |