Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173903619A>T , CM000663.2:g.173903619A>T | GRCh38 |
| NC_000001.10:g.173872757A>T , CM000663.1:g.173872757A>T | GRCh37 |
| NC_000001.9:g.172139380A>T | NCBI36 |
| NG_012462.1:g.18760T>A , LRG_577:g.18760T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_001365052.1:c.*270T>A | NP_001351981.1:n.*270T>A |