Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.58749950G>T , CM000677.2:g.58749950G>T | GRCh38 |
| NC_000015.9:g.59042149G>T , CM000677.1:g.59042149G>T | GRCh37 |
| NC_000015.8:g.56829441G>T | NCBI36 |
| NG_033876.1:g.5029C>A | |
| NG_033876.2:g.4758C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260408.7:c.-416C>A | ENSP00000260408.3:n.-416C>A | |
| NM_001110.3:c.-416C>A | NP_001101.1:n.-416C>A | |
| NM_001320570.1:c.-416C>A | NP_001307499.1:n.-416C>A |