Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.74493530G>C , CM000676.2:g.74493530G>C | GRCh38 |
| NC_000014.8:g.74960233G>C , CM000676.1:g.74960233G>C | GRCh37 |
| NC_000014.7:g.74029986G>C | NCBI36 |
| NG_007117.1:g.4852C>G | |
| NG_033074.1:g.4811G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555592.1:c.-64+40C>G | ENSP00000450887.1:n.-64+40C>G | |
| ENST00000556009.5:c.147+501C>G |