Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17401562T>G , CM000663.2:g.17401562T>G | GRCh38 |
| NC_000001.10:g.17728058T>G , CM000663.1:g.17728058T>G | GRCh37 |
| NC_000001.9:g.17600645T>G | NCBI36 |
| NG_032943.1:g.34317T>G | |
| NG_032943.2:g.34317T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000619609.1:c.*124T>G MANE Select | ENSP00000483125.1:n.*124T>G | |
| NM_207421.4:c.*124T>G MANE Select | NP_997304.3:n.*124T>G |