Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173903659A= , CM000663.2:g.173903659A= | GRCh38 |
| NC_000001.10:g.173872797A= , CM000663.1:g.173872797A= | GRCh37 |
| NC_000001.9:g.172139420A= | NCBI36 |
| NG_012462.1:g.18720T= , LRG_577:g.18720T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_001365052.1:c.*230T= | NP_001351981.1:n.*230T= |