Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47402975G>A , CM000664.2:g.47402975G>A | GRCh38 |
| NC_000002.11:g.47630114G>A , CM000664.1:g.47630114G>A | GRCh37 |
| NC_000002.10:g.47483618G>A | NCBI36 |
| NG_007110.2:g.4852G>A , LRG_218:g.4852G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233146.6:c.-217G>A | ENSP00000233146.2:n.-217G>A |