Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72134303G>T , CM000673.2:g.72134303G>T | GRCh38 |
| NC_000011.9:g.71845349G>T , CM000673.1:g.71845349G>T | GRCh37 |
| NC_000011.8:g.71522997G>T | NCBI36 |
| NG_032935.1:g.3579G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622388.4:c.-6-1644G>T | ENSP00000481833.1:n.-6-1644G>T |