Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.299408G= , CM000673.2:g.299408G= | GRCh38 |
| NC_000011.9:g.299408G= , CM000673.1:g.299408G= | GRCh37 |
| NC_000011.8:g.289408G= | NCBI36 |
| NG_032892.1:g.5119C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382614.2:c.83C= MANE Select | ENSP00000372059.2:p.Ala28= | |
| NM_001025295.2:c.83C= | NP_001020466.1:p.Ala28= | |
| NM_001025295.3:c.83C= MANE Select | NP_001020466.1:p.Ala28= |