Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.63961061C>A , CM000667.2:g.63961061C>A | GRCh38 |
| NC_000005.9:g.63256888C>A , CM000667.1:g.63256888C>A | GRCh37 |
| NC_000005.8:g.63292644C>A | NCBI36 |
| NG_032816.1:g.6232G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000524.4:c.659G>T MANE Select | NP_000515.2:p.Arg220Leu |
| ENST00000323865.5:c.659G>T MANE Select | ENSP00000316244.4:p.Arg220Leu |
| NM_000524.3:c.659G>T | NP_000515.2:p.Arg220Leu |
| ENST00000323865.4:c.659G>T | ENSP00000316244.3:p.Arg220Leu |