Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48705753T>A , CM000681.2:g.48705753T>A | GRCh38 |
| NC_000019.9:g.49209010T>A , CM000681.1:g.49209010T>A | GRCh37 |
| NC_000019.8:g.53900822T>A | NCBI36 |
| NG_007511.1:g.14783T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000511.6:c.*1765T>A MANE Select | NP_000502.4:n.*1765T>A |
| ENST00000425340.3:c.*1765T>A MANE Select | ENSP00000387498.2:n.*1765T>A |
| NM_000511.5:c.*1765T>A | NP_000502.4:n.*1765T>A |
| NM_001097638.2:c.*1765T>A | NP_001091107.1:n.*1765T>A |
| NM_001097638.3:c.*1765T>A | NP_001091107.1:n.*1765T>A |
| ENST00000425340.2:c.*1765T>A | ENSP00000387498.2:n.*1765T>A |