Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47403023T>G , CM000664.2:g.47403023T>G | GRCh38 |
| NC_000002.11:g.47630162T>G , CM000664.1:g.47630162T>G | GRCh37 |
| NC_000002.10:g.47483666T>G | NCBI36 |
| NG_007110.2:g.4900T>G , LRG_218:g.4900T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233146.6:c.-169T>G | ENSP00000233146.2:n.-169T>G |