Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.299437G>T , CM000673.2:g.299437G>T | GRCh38 |
| NC_000011.9:g.299437G>T , CM000673.1:g.299437G>T | GRCh37 |
| NC_000011.8:g.289437G>T | NCBI36 |
| NG_032892.1:g.5090C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382614.2:c.54C>A MANE Select | ENSP00000372059.2:p.Ala18= | |
| NM_001025295.2:c.54C>A | NP_001020466.1:p.Ala18= | |
| NM_001025295.3:c.54C>A MANE Select | NP_001020466.1:p.Ala18= |