Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.74493527C>G , CM000676.2:g.74493527C>G | GRCh38 |
| NC_000014.8:g.74960230C>G , CM000676.1:g.74960230C>G | GRCh37 |
| NC_000014.7:g.74029983C>G | NCBI36 |
| NG_007117.1:g.4855G>C | |
| NG_033074.1:g.4808C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555592.1:c.-64+43G>C | ENSP00000450887.1:n.-64+43G>C | |
| ENST00000556009.5:c.147+504G>C |