Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173903675C>T , CM000663.2:g.173903675C>T | GRCh38 |
| NC_000001.10:g.173872813C>T , CM000663.1:g.173872813C>T | GRCh37 |
| NC_000001.9:g.172139436C>T | NCBI36 |
| NG_012462.1:g.18704G>A , LRG_577:g.18704G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_001365052.1:c.*214G>A | NP_001351981.1:n.*214G>A |