Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72134472A>C , CM000673.2:g.72134472A>C | GRCh38 |
| NC_000011.9:g.71845518A>C , CM000673.1:g.71845518A>C | GRCh37 |
| NC_000011.8:g.71523166A>C | NCBI36 |
| NG_032935.1:g.3748A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622388.4:c.-6-1475A>C | ENSP00000481833.1:n.-6-1475A>C |