Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.298710G>A , CM000673.2:g.298710G>A | GRCh38 |
| NC_000011.9:g.298710G>A , CM000673.1:g.298710G>A | GRCh37 |
| NC_000011.8:g.288710G>A | NCBI36 |
| NG_032892.1:g.5817C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001025295.3:c.190C>T MANE Select | NP_001020466.1:p.Arg64Ter |
| ENST00000382614.2:c.190C>T MANE Select | ENSP00000372059.2:p.Arg64Ter |
| NM_001025295.2:c.190C>T | NP_001020466.1:p.Arg64Ter |