Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118304596T>C , CM000673.2:g.118304596T>C | GRCh38 |
| NC_000011.9:g.118175311T>C , CM000673.1:g.118175311T>C | GRCh37 |
| NC_000011.8:g.117680521T>C | NCBI36 |
| NG_007383.1:g.5017T>C , LRG_38:g.5017T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361763.8:c.-240T>C | ENSP00000354566.4:n.-240T>C | |
| NM_000733.3:c.-240T>C , LRG_38t1:c.-240T>C | NP_000724.1:n.-240T>C |