Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102871906C>A , CM000673.2:g.102871906C>A | GRCh38 |
| NC_000011.9:g.102742636C>A , CM000673.1:g.102742636C>A | GRCh37 |
| NC_000011.8:g.102247846C>A | NCBI36 |
| NG_032936.1:g.8129G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000571244.3:c.397G>T MANE Select | ENSP00000458585.1:p.Ala133Ser | |
| ENST00000571244.2:c.397G>T | ENSP00000458585.1:p.Ala133Ser | |
| NM_002426.4:c.397G>T | NP_002417.2:p.Ala133Ser | |
| NM_002426.5:c.397G>T | NP_002417.2:p.Ala133Ser | |
| NM_002426.6:c.397G>T MANE Select | NP_002417.2:p.Ala133Ser |