Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.63961061C= , CM000667.2:g.63961061C= | GRCh38 |
| NC_000005.9:g.63256888C= , CM000667.1:g.63256888C= | GRCh37 |
| NC_000005.8:g.63292644C= | NCBI36 |
| NG_032816.1:g.6232G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000524.4:c.659G= MANE Select | NP_000515.2:p.Arg220= |
| ENST00000323865.5:c.659G= MANE Select | ENSP00000316244.4:p.Arg220= |
| NM_000524.3:c.659G= | NP_000515.2:p.Arg220= |
| ENST00000323865.4:c.659G= | ENSP00000316244.3:p.Arg220= |