Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116822748C>A , CM000673.2:g.116822748C>A | GRCh38 |
| NC_000011.9:g.116693464C>A , CM000673.1:g.116693464C>A | GRCh37 |
| NC_000011.8:g.116198674C>A | NCBI36 |
| NG_012044.1:g.5548G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000482.4:c.87G>T MANE Select | NP_000473.2:p.Thr29= |
| ENST00000357780.5:c.87G>T MANE Select | ENSP00000350425.3:p.Thr29= |
| NM_000482.3:c.87G>T | NP_000473.2:p.Thr29= |
| ENST00000357780.4:c.87G>T | ENSP00000350425.3:p.Thr29= |