Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.187219412T>A , CM000665.2:g.187219412T>A | GRCh38 |
| NC_000003.11:g.186937200T>A , CM000665.1:g.186937200T>A | GRCh37 |
| NC_000003.10:g.188419894T>A | NCBI36 |
| NG_029440.1:g.77611A>T , LRG_349:g.77611A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001879.6:c.*659A>T MANE Plus Clinical | NP_001870.3:n.*659A>T |
| ENST00000337774.10:c.*659A>T MANE Plus Clinical | ENSP00000336792.5:n.*659A>T |
| NM_001879.5:c.*659A>T , LRG_349t2:c.*659A>T | NP_001870.3:n.*659A>T |
| ENST00000337774.9:c.*659A>T | ENSP00000336792.5:n.*659A>T |