Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45329212A= , CM000663.2:g.45329212A= | GRCh38 |
| NC_000001.10:g.45794884A= , CM000663.1:g.45794884A= | GRCh37 |
| NC_000001.9:g.45567471A= | NCBI36 |
| NG_008189.1:g.16259T= , LRG_220:g.16259T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529984.5:c.*94T= | ENSP00000437093.1:n.*94T= |