Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.97960747C>T , CM000677.2:g.97960747C>T | GRCh38 |
| NC_000015.9:g.98503977C>T , CM000677.1:g.98503977C>T | GRCh37 |
| NC_000015.8:g.96304981C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268042.7:c.-115C>T MANE Select | ENSP00000268042.6:n.-115C>T | |
| ENST00000268042.6:c.-115C>T | ENSP00000268042.6:n.-115C>T | |
| NM_183376.2:c.-115C>T | NP_899232.2:n.-115C>T | |
| NM_183376.3:c.-115C>T MANE Select | NP_899232.2:n.-115C>T |