Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.92637477G>A , CM000672.2:g.92637477G>A | GRCh38 |
| NC_000010.10:g.94397234G>A , CM000672.1:g.94397234G>A | GRCh37 |
| NC_000010.9:g.94387214G>A | NCBI36 |
| NG_032580.1:g.49410G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260731.5:c.2092G>A MANE Select | ENSP00000260731.3:p.Val698Ile | |
| ENST00000676621.1:c.*610G>A | ENSP00000503639.1:n.*610G>A | |
| ENST00000676647.1:c.1885G>A | ENSP00000503394.1:p.Val629Ile | |
| ENST00000676757.1:c.1885G>A | ENSP00000504289.1:p.Val629Ile | |
| ENST00000677720.1:c.*66G>A | ENSP00000504840.1:n.*66G>A | |
| ENST00000260731.4:c.2092G>A | ENSP00000260731.3:p.Val698Ile | |
| NM_004523.3:c.2092G>A | NP_004514.2:p.Val698Ile | |
| NM_004523.4:c.2092G>A MANE Select | NP_004514.2:p.Val698Ile |