Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1103960T>G , CM000681.2:g.1103960T>G | GRCh38 |
| NC_000019.9:g.1103959T>G , CM000681.1:g.1103959T>G | GRCh37 |
| NC_000019.8:g.1054959T>G | NCBI36 |
| NG_050621.1:g.5035T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354171.12:c.-84T>G | ENSP00000346103.7:n.-84T>G | |
| ENST00000616066.4:c.-84T>G | ENSP00000485000.1:n.-84T>G | |
| NM_001039847.2:c.-84T>G | NP_001034936.1:n.-84T>G | |
| NM_002085.4:c.-84T>G | NP_002076.2:n.-84T>G |