Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47403062C= , CM000664.2:g.47403062C= | GRCh38 |
| NC_000002.11:g.47630201C= , CM000664.1:g.47630201C= | GRCh37 |
| NC_000002.10:g.47483705C= | NCBI36 |
| NG_007110.2:g.4939C= , LRG_218:g.4939C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233146.6:c.-130C= | ENSP00000233146.2:n.-130C= |