Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.74493559C>T , CM000676.2:g.74493559C>T | GRCh38 |
| NC_000014.8:g.74960262C>T , CM000676.1:g.74960262C>T | GRCh37 |
| NC_000014.7:g.74030015C>T | NCBI36 |
| NG_007117.1:g.4823G>A | |
| NG_033074.1:g.4840C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555592.1:c.-64+11G>A | ENSP00000450887.1:n.-64+11G>A | |
| ENST00000556009.5:c.147+472G>A |