Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52433824C>T , CM000674.2:g.52433824C>T | GRCh38 |
| NC_000012.11:g.52827608C>T , CM000674.1:g.52827608C>T | GRCh37 |
| NC_000012.10:g.51113875C>T | NCBI36 |
| NG_008403.1:g.5503G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004693.3:c.481G>A MANE Select | NP_004684.2:p.Ala161Thr |
| ENST00000252245.6:c.481G>A MANE Select | ENSP00000252245.5:p.Ala161Thr |
| NM_004693.2:c.481G>A | NP_004684.2:p.Ala161Thr |
| ENST00000252245.5:c.481G>A | ENSP00000252245.5:p.Ala161Thr |