Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.50911009C= , CM000685.2:g.50911009C= | GRCh38 |
| NC_000023.10:g.50654009C= , CM000685.1:g.50654009C= | GRCh37 |
| NC_000023.9:g.50670749C= | NCBI36 |
| NG_012894.1:g.5226C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252677.4:c.226C= MANE Select | ENSP00000252677.3:p.Arg76= | |
| ENST00000252677.3:c.226C= | ENSP00000252677.3:p.Arg76= | |
| NM_005448.2:c.226C= MANE Select | NP_005439.2:p.Arg76= |