Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17401555T>A , CM000663.2:g.17401555T>A | GRCh38 |
| NC_000001.10:g.17728051T>A , CM000663.1:g.17728051T>A | GRCh37 |
| NC_000001.9:g.17600638T>A | NCBI36 |
| NG_032943.1:g.34310T>A | |
| NG_032943.2:g.34310T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000619609.1:c.*117T>A MANE Select | ENSP00000483125.1:n.*117T>A | |
| NM_207421.4:c.*117T>A MANE Select | NP_997304.3:n.*117T>A |