Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.97960939C>T , CM000677.2:g.97960939C>T | GRCh38 |
| NC_000015.9:g.98504169C>T , CM000677.1:g.98504169C>T | GRCh37 |
| NC_000015.8:g.96305173C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268042.7:c.78C>T MANE Select | ENSP00000268042.6:p.Asp26= | |
| ENST00000268042.6:c.78C>T | ENSP00000268042.6:p.Asp26= | |
| NM_183376.2:c.78C>T | NP_899232.2:p.Asp26= | |
| NM_183376.3:c.78C>T MANE Select | NP_899232.2:p.Asp26= |