Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46004151G>A , CM000683.2:g.46004151G>A | GRCh38 |
| NC_000021.8:g.47424065G>A , CM000683.1:g.47424065G>A | GRCh37 |
| NC_000021.7:g.46248493G>A | NCBI36 |
| NG_008674.1:g.27403G>A , LRG_475:g.27403G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001848.3:c.*138G>A MANE Select | NP_001839.2:n.*138G>A |
| ENST00000361866.8:c.*138G>A MANE Select | ENSP00000355180.3:n.*138G>A |
| NM_001848.2:c.*138G>A , LRG_475t1:c.*138G>A | NP_001839.2:n.*138G>A |
| ENST00000361866.7:c.*138G>A | ENSP00000355180.3:n.*138G>A |
| ENST00000498614.5:n.1459G>A | |
| ENST00000612273.2:c.1198+153G>A | |
| ENST00000682634.1:c.1057+294G>A |