Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.54456068G>A , CM000667.2:g.54456068G>A | GRCh38 |
| NC_000005.9:g.53751898G>A , CM000667.1:g.53751898G>A | GRCh37 |
| NC_000005.8:g.53787655G>A | NCBI36 |
| NG_027758.1:g.5468G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006308.3:c.279G>A MANE Select | NP_006299.1:p.Trp93Ter |
| ENST00000302005.3:c.279G>A MANE Select | ENSP00000303394.1:p.Trp93Ter |
| NM_006308.2:c.279G>A | NP_006299.1:p.Trp93Ter |
| ENST00000302005.2:c.279G>A | ENSP00000303394.1:p.Trp93Ter |