Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.70777314T>G , CM000664.2:g.70777314T>G | GRCh38 |
| NC_000002.11:g.71004446T>G , CM000664.1:g.71004446T>G | GRCh37 |
| NC_000002.10:g.70857954T>G | NCBI36 |
| NG_013044.1:g.18330A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332372.6:c.*53A>C MANE Select | ENSP00000333097.6:n.*53A>C | |
| NM_001004311.3:c.*53A>C MANE Select | NP_001004311.2:n.*53A>C |