Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.74493542C>A , CM000676.2:g.74493542C>A | GRCh38 |
| NC_000014.8:g.74960245C>A , CM000676.1:g.74960245C>A | GRCh37 |
| NC_000014.7:g.74029998C>A | NCBI36 |
| NG_007117.1:g.4840G>T | |
| NG_033074.1:g.4823C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555592.1:c.-64+28G>T | ENSP00000450887.1:n.-64+28G>T | |
| ENST00000556009.5:c.147+489G>T |