Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72134693C= , CM000673.2:g.72134693C= | GRCh38 |
| NC_000011.9:g.71845739C= , CM000673.1:g.71845739C= | GRCh37 |
| NC_000011.8:g.71523387C= | NCBI36 |
| NG_032935.1:g.3969C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622388.4:c.-6-1254C= | ENSP00000481833.1:n.-6-1254C= |