Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52433824C= , CM000674.2:g.52433824C= | GRCh38 |
| NC_000012.11:g.52827608C= , CM000674.1:g.52827608C= | GRCh37 |
| NC_000012.10:g.51113875C= | NCBI36 |
| NG_008403.1:g.5503G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252245.6:c.481G= MANE Select | ENSP00000252245.5:p.Ala161= | |
| ENST00000252245.5:c.481G= | ENSP00000252245.5:p.Ala161= | |
| NM_004693.2:c.481G= | NP_004684.2:p.Ala161= | |
| NM_004693.3:c.481G= MANE Select | NP_004684.2:p.Ala161= |