Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.58749917C= , CM000677.2:g.58749917C= | GRCh38 |
| NC_000015.9:g.59042116C= , CM000677.1:g.59042116C= | GRCh37 |
| NC_000015.8:g.56829408C= | NCBI36 |
| NG_033876.1:g.5062G= | |
| NG_033876.2:g.4791G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260408.7:c.-383G= | ENSP00000260408.3:n.-383G= | |
| NM_001110.3:c.-383G= | NP_001101.1:n.-383G= | |
| NM_001320570.1:c.-383G= | NP_001307499.1:n.-383G= |