Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.58749813T>A , CM000677.2:g.58749813T>A | GRCh38 |
| NC_000015.9:g.59042012T>A , CM000677.1:g.59042012T>A | GRCh37 |
| NC_000015.8:g.56829304T>A | NCBI36 |
| NG_033876.1:g.5166A>T | |
| NG_033876.2:g.4895A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260408.7:c.-279A>T | ENSP00000260408.3:n.-279A>T | |
| NM_001110.3:c.-279A>T | NP_001101.1:n.-279A>T | |
| NM_001320570.1:c.-279A>T | NP_001307499.1:n.-279A>T |