Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80152683G>C , CM000677.2:g.80152683G>C | GRCh38 |
| NC_000015.9:g.80445025G>C , CM000677.1:g.80445025G>C | GRCh37 |
| NC_000015.8:g.78232080G>C | NCBI36 |
| NG_012833.1:g.4685G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558022.5:c.-30+138G>C | ENSP00000453152.1:n.-30+138G>C |