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