Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45329217C>G , CM000663.2:g.45329217C>G | GRCh38 |
| NC_000001.10:g.45794889C>G , CM000663.1:g.45794889C>G | GRCh37 |
| NC_000001.9:g.45567476C>G | NCBI36 |
| NG_008189.1:g.16254G>C , LRG_220:g.16254G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529984.5:c.*89G>C | ENSP00000437093.1:n.*89G>C |