Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68690955G>A , CM000673.2:g.68690955G>A | GRCh38 |
| NC_000011.9:g.68458423G>A , CM000673.1:g.68458423G>A | GRCh37 |
| NC_000011.8:g.68214999G>A | NCBI36 |
| NG_052785.1:g.11481G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265643.4:c.340G>A MANE Select | ENSP00000265643.3:p.Ala114Thr | |
| ENST00000265643.3:c.340G>A | ENSP00000265643.3:p.Ala114Thr | |
| NM_015973.3:c.340G>A | NP_057057.2:p.Ala114Thr | |
| NM_015973.4:c.340G>A | NP_057057.2:p.Ala114Thr | |
| NM_015973.5:c.340G>A MANE Select | NP_057057.2:p.Ala114Thr |