Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80152658A>T , CM000677.2:g.80152658A>T | GRCh38 |
| NC_000015.9:g.80445000A>T , CM000677.1:g.80445000A>T | GRCh37 |
| NC_000015.8:g.78232055A>T | NCBI36 |
| NG_012833.1:g.4660A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558022.5:c.-30+113A>T | ENSP00000453152.1:n.-30+113A>T |