Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173903655G>C , CM000663.2:g.173903655G>C | GRCh38 |
| NC_000001.10:g.173872793G>C , CM000663.1:g.173872793G>C | GRCh37 |
| NC_000001.9:g.172139416G>C | NCBI36 |
| NG_012462.1:g.18724C>G , LRG_577:g.18724C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_001365052.1:c.*234C>G | NP_001351981.1:n.*234C>G |