Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.68231383C>T , CM000672.2:g.68231383C>T | GRCh38 |
| NC_000010.10:g.69991140C>T , CM000672.1:g.69991140C>T | GRCh37 |
| NC_000010.9:g.69661146C>T | NCBI36 |
| NG_031934.1:g.5731G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373673.5:c.295G>A MANE Select | ENSP00000362777.3:p.Ala99Thr | |
| ENST00000373673.4:c.295G>A | ENSP00000362777.3:p.Ala99Thr | |
| NM_145178.3:c.295G>A | NP_660161.1:p.Ala99Thr | |
| NM_145178.4:c.295G>A MANE Select | NP_660161.1:p.Ala99Thr |