Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80152593T>G , CM000677.2:g.80152593T>G | GRCh38 |
| NC_000015.9:g.80444935T>G , CM000677.1:g.80444935T>G | GRCh37 |
| NC_000015.8:g.78231990T>G | NCBI36 |
| NG_012833.1:g.4595T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558022.5:c.-30+48T>G | ENSP00000453152.1:n.-30+48T>G |