Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.58749914A= , CM000677.2:g.58749914A= | GRCh38 |
| NC_000015.9:g.59042113A= , CM000677.1:g.59042113A= | GRCh37 |
| NC_000015.8:g.56829405A= | NCBI36 |
| NG_033876.1:g.5065T= | |
| NG_033876.2:g.4794T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260408.7:c.-380T= | ENSP00000260408.3:n.-380T= | |
| NM_001110.3:c.-380T= | NP_001101.1:n.-380T= | |
| NM_001320570.1:c.-380T= | NP_001307499.1:n.-380T= |