Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229430970C>G , CM000663.2:g.229430970C>G | GRCh38 |
| NC_000001.10:g.229566717C>G , CM000663.1:g.229566717C>G | GRCh37 |
| NC_000001.9:g.227633340C>G | NCBI36 |
| NG_006672.1:g.8127G>C , LRG_429:g.8127G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684723.1:c.*529G>C | ENSP00000508084.1:n.*529G>C |