Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.41387294G>A , CM000677.2:g.41387294G>A | GRCh38 |
| NC_000015.9:g.41679492G>A , CM000677.1:g.41679492G>A | GRCh37 |
| NC_000015.8:g.39466784G>A | NCBI36 |
| NG_031924.1:g.20167C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000560978.2:c.*150C>T | ENSP00000453944.2:n.*150C>T |