Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173903703G>A , CM000663.2:g.173903703G>A | GRCh38 |
| NC_000001.10:g.173872841G>A , CM000663.1:g.173872841G>A | GRCh37 |
| NC_000001.9:g.172139464G>A | NCBI36 |
| NG_012462.1:g.18676C>T , LRG_577:g.18676C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_001365052.1:c.*186C>T | NP_001351981.1:n.*186C>T |