Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.104855790G>A , CM000664.2:g.104855790G>A | GRCh38 |
| NC_000002.11:g.105472248G>A , CM000664.1:g.105472248G>A | GRCh37 |
| NC_000002.10:g.104838680G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006236.3:c.280G>A MANE Select | NP_006227.1:p.Ala94Thr |
| ENST00000361360.4:c.280G>A MANE Select | ENSP00000355001.2:p.Ala94Thr |
| NM_006236.1:c.280G>A | NP_006227.1:p.Ala94Thr |
| NM_006236.2:c.280G>A | NP_006227.1:p.Ala94Thr |
| ENST00000361360.2:c.280G>A | ENSP00000355001.2:p.Ala94Thr |
| ENST00000674056.1:c.280G>A | ENSP00000501036.1:p.Ala94Thr |