Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72134330T>G , CM000673.2:g.72134330T>G | GRCh38 |
| NC_000011.9:g.71845376T>G , CM000673.1:g.71845376T>G | GRCh37 |
| NC_000011.8:g.71523024T>G | NCBI36 |
| NG_032935.1:g.3606T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622388.4:c.-6-1617T>G | ENSP00000481833.1:n.-6-1617T>G |